large abscess in the middle of the right neck

019. A 43 year old woman came with a large abscess in the middle of the right posterior triangle of the neck. The physician incised and drained the abscess. Five days later the patient noticed that she could not extend her right hand above her head to brush her hair. Which of the following are the signs and symptoms of additional harm?

1. Damage to scalenus medius

2. Injury to suprascapular nerve

3. Cut to spinal part of accessory nerve

4. Spread of infection to shoulder joint

Answer

3. Cut to spinal part of accessory nerve

Reference

Gray 38^th Edition Page 1255

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The accessory nerve is conventionally described as a single entity though its two components (which join for a relatively short part of its course) are of quite separate origin. The cranial root (the internal ramus), which joins the vagus, has been considered to be a branchial or special visceral efferent nerve, though in animals it contains, in addition, a general visceral efferent component. The spinal root (the external ramus) can be considered as a somatic, special visceral efferent, or mixed nerve, depending on the view taken of the embryological origin of the muscles it supplies, sternocleidomastoid and trapezius.

Explanation

1. Scalenus medius bends the cervical part of the vertebral column to the same side and helps to raise the first rib
2. Suprascapular nerve supplies Supraspinatus and infraspintus and hence the woman will have difficulty in initiation of abduction. Once the arm is abducted for about 15o then deltoid and later trapezius will take over the abduction.
3. Trapezius is needed for hyperabduction (extending the hand above the head to brush hair) and when the spinal part of accessory nerve is cut, the woman will not be able to brush her hair.
4. Spread of infection to shoulder joint limits all movements in general and not hyperabduction in particular

Comments

Ä Abduction is initiated by the supraspinateus 0 to 15 degree and the humerus moves over glenoid (Glenohumeral).

Ä Then from 15 to 90 degree the arm is abducted by deltoid and the humerus moves over glenoid (Scapulothoracic).

Ä Further abduction above 90 degrees (Hyperabduction is done by the trapezius and serratus anterior which rotate the scapula.

Tips

Refer to Question Number 17 (2003 Paper) in the TargetPG Series AIPG Book for a detailed discussion

Referred pain may be felt along the inner side of right thigh

018. Referred pain from all of the following conditions may be felt along the inner side of right thigh, except:

1. Inflamed pelvic appendix

2. Inflamed ovaries

3. Stone in pelvic Ureter

4. Pelvic abscess

Answer

4. Pelvic abscess

Reference

Gray 38^th Edition Pages 1307, 1866

Das, A manual of clinical Surgery 4^th Edition Page 326

Das, A Concise text book of surgery 3^rd edition Page 997

Bailey and Love 24^th Edition Page 1207

Sabiston 15^th Edition Chapter 44

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Pain felt in one area of the body does not accurately represent where the problem is, because the pain is referred there from another area. Pain can be referred because signals from several areas of the body often travel through the same nerve pathways going to the spinal cord and brain. For example, pain from a heart attack may be felt in the neck, jaws, arms, or abdomen. Pain from a gallbladder attack may be felt in the back of the shoulder.

Explanation

Ä Pelvic Abscess may follow acute pelvic infection, pelvic surgery, septicemia, puerperal endometritis, appendicitis, or peritonitis of any cause. It may be localized in the cul-de-sac or between the leaves of the broad ligament, or it may be tubo-ovarian. If gonorrhea is the primary cause, the purulent exudate usually does not contain the organism, because it is short-lived in such conditions. Secondary organisms such as colon bacilli and anaerobic organisms such as Bacteroides, streptococci, and staphylococci may be present in large quantities. The signs and symptoms of pelvic abscess are elevation of temperature and pulse, pelvic or lower abdominal pain, and leukocytosis. (Sabiston)

Ä Patient will complain of pain in the lower abdomen and run temperature (A manual of clinical Surgery)

Ä The patient may complain of a poorly localized dull abdominal pain. (A Concise text book of surgery)

Ä The most characteristic symptoms of a pelvic abscess are diarrhea and the passage of mucus in the stools.

Comments

All textbooks talk of Ureteric pain being referred to the Inner side of right thigh. However there is little mention about the other two choices given

Tips

Read the topic “pain and Nociception” from Gray (38^th Edition Page 1005)

development events are dependent on the production of maternal or fetal glucocorticoid,

017. All of the following development events are dependent on the production of maternal or fetal glucocorticoid, except

1. Induction of thymic involution

2. Production of surfactant by type II alveolar cells

3. Functional thyroid

4. Functional hypothalamopituitary axis

Answer

3. Functional thyroid

Reference

Ganong 22^nd Edtion Page 370

Guyton 11^th Edition Page 954

KDTripathi 5^th Edition Page 258

Nelson 15^th Edition Chapter 87.3 and Chapter 518

OP Ghai 6^th Edition Page 482

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Glucocorticoids have a major role in the synthesis of Surfactant by type II cells and also in the induction of thymic involution (Ganong) and functional hypothalamo pituitary axis (Ganong)

Explanation

The fetal hypothalamic-pituitary-thyroid system develops independently of maternal influence. (Nelson Chapter 518). It starts functioning by the 20^th week and is generally independent of the maternal endocrine status (OP Ghai)

Comments

Approximately one third of maternal T4 crosses the placenta to the fetus. Maternal T4 may play a role in fetal development, especially that of the brain, before the synthesis of fetal thyroid hormones begins. The fetus of a hypothyroid mother may be at risk for neurologic damage, and a hypothyroid fetus may be partially protected by maternal T4 until delivery.

Tips

Etiocholanonlone, one of the metabolites of the adrenal androgens and testosterone can cause fever when it is unconjugated. Certain individuals have episodic bouts of fever due to periodic accumulation in the blood of unconjugated etiocholanone termed as “etiocholanone fever”

following are the components of the white pulp of spleen

016. All of the following are the components of the white pulp of spleen, except :

1. Periarteriolar lymphoid sheath.

2. B cells.

3. Antigen presenting cells.

4. Vascular sinus.

Answer

4. Vascular sinus.

Reference:

Guyton 11^th Edition Page 434

Gray 38^th Edition Page 1439

Robbins 7^th Edition Page 702

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The spleen is also covered externally by a series of connective tissue bars (trabeculae); they ramify throughout the whole structure to create a fibrous skeleton supporting its delicate tissues, which include both lymphoid tissues (white pulp) and extensive areas of blood-filled tissue (red pulp). In the living the spleen is soft and friable, and is dark purple because of the considerable amount of blood within its substance.

Explanation

Microscopically, the internal mass (parenchyma) of the spleen consists of two major components, known as white pulp and red pulp, denoting their appearance when the freshly excised spleen is transected. The white pulp is composed of lymphoid tissue in which B and T lymphocytes can mature and proliferate under antigenic stimulation. The red pulp is a unique filtration device which enables macrophages in the spleen to extract particulates from the blood as it perfuses this organ. Red pulp is composed of a complex system of interconnected spaces inhabited by large numbers of phagocytic macrophages. These cells remove and dismantle effete red blood cells, micro-organisms, cellular debris and other particulates from the circulation. At the junction of white and red pulp is a narrow marginal zone, an area important in establishing immune responses and other aspects of splenic biology.

Comments

The red pulp constitutes the majority (about 75%) of the total splenic volume. Within it lie large numbers of venous sinuses draining into tributaries of the major splenic veins.

Tips

The sinuses are separated from each other by a fibrocellular network, the reticulum, formed by numerous fibroblasts (reticular cells) and small bundles of delicate collagen fibres, in the meshes of which lie splenic macrophages. Seen in two-dimensional sections, these intersinusal regions appear as strips of tissue, splenic cords (of Billroth), alternating with splenic sinuses although in reality they form a three-dimensional continuum around the venous spaces. To understand the organization of the red pulp some details of the sinuses and of the intersinusal reticulum are required, as follows.

cell types contain the enzyme telomerase which protects the length of telomeres at the end of chromosomes

015. All of the following cell types contain the enzyme telomerase which protects the length of telomeres at the end of chromosomes, except :

1. Germinal

2. Somatic.

3. Haemopoetic.

4. Tumour.

Answer

2. Somatic.

Reference:

Lippincot 3^rd edition Page 405

Ganong 22^nd Edition Page 20

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Telomerase is an enzyme, discovered by Elizabeth Helen Blackburn and Carol Greider, that adds specific DNA sequence repeats, ("TTAGGG" in all vertebrates) to the 3' ("three prime") end of DNA strands, in the telomere regions at the ends of chromosomes. The enzyme is a reverse transcriptase that carries its own RNA template; the RNA is used as a template for DNA synthesis.. Telomerase (TE-LÓM-ER-ACE) is a ribonucleoprotein enzyme complex (a cellular reverse transcriptase) that maintains chromosome ends and has been referred to as a cellular immortalizing enzyme. Telomerase is a ribonucleoprotein reverse transcriptase enzyme (composed of both RNA and proteins) that uses its internal RNA component (complementary to the telomeric single stranded overhang) as a template in order to synthesize telomeric DNA (TTAGGG)n, directly onto the ends of chromosomes. Telomerase is present in most fetal tissues, normal adult male germ cells, inflammatory cells, in proliferative cells of renewal tissues, and in most tumor cells. After adding six bases, the enzyme is thought to pause while it repositions (translocates) the template RNA for the synthesis of the next six base pair repeat. This extension of the 3' DNA template end in turn permits additional replication of the 5' end of the lagging strand, thus compensating for the end-replication problem.

Interpretation

Telomerase is needed for the cell that actively divides. We know that germinal celss, tumour cells and hemopoietic cells are actively dividing cells

Comments

Telomeres are repeated DNA sequences that protect the ends of chromosomes from being treated like a broken piece of DNA needing repair. Without telomeres, the ends of the chromosomes would be "repaired", leading to chromosome fusion and massive genomic instability. Telomeres are also thought to be the "clock" that regulates how many times an individual cell can divide. Telomeric sequences shorten each time the DNA replicates. When at least some of the telomeres reach a critically short length, the cell stops dividing and ages (senesces) which may cause or contribute to some age-related diseases. In cancer, a special cellular reverse transcriptase, telomerase, is reactivated and maintains the length of telomeres, allowing tumor cells to continue to proliferate.

Tips

Telomeres are repeated DNA sequences that protect the ends of chromosomes from being treated like a broken piece of DNA needing repair. Without telomeres, the ends of the chromosomes would be "repaired", leading to chromosome fusion and massive genomic instability. Telomeres are also thought to be the "clock" that regulates how many times an individual cell can divide. Telomeric sequences shorten each time the DNA replicates. When at least some of the telomeres reach a critically short length, the cell stops dividing and ages (senesces) which may cause or contribute to some age-related diseases. In cancer, a special cellular reverse transcriptase, telomerase, is reactivated and maintains the length of telomeres, allowing tumor cells to continue to proliferate.

Microsatellite sequence is Short sequence (2-5) repeat DNA

014. Microsatellite sequence is:

1. Small satellite.

2. Extra chromosomal DNA.

3. Short sequence (2-5) repeat DNA.

4. Looped-DNA.

Answer

3. Short sequence (2-5) repeat DNA.

Reference:

Harrison 16^th Edition Page 449

Robbins 7^th Edition Page 307

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Microsatellites are tandem repeats of one to six nucleotides scattered throughout the genome

Explanation

Ä "Microsatellites" are defined as loci (or regions within DNA sequences) where short sequences of DNA (nucleotides; adenine - A, thiamine - T, guanine - G, cytosine - C) are repeated in tandem arrays. This means that the sequences are repeated one right after the other. The lengths of sequences used most often are di-, tri-, or tetra-nucleotides.

Ä

Comments

Ä A microsatellite consists of a specific sequence of DNA bases or nucleotides which contains mono, di, tri, or tetra tandem repeats. For example,

o AAAAAAAAAAA would be referred to as (A)11

o GTGTGTGTGTGT would be referred to as (GT)6

o CTGCTGCTGCTG would be referred to as (CTG)4

o ACTCACTCACTCACTC would be referred to as (ACTC)4

Ä In the literature they can also be called simple sequence repeats (SSR), short tandem repeats (STR), or variable number tandem repeats (VNTR). Alleles at a specific location (locus) can differ in the number of repeats. Microsastellites are inherited in a Mendelian fashion.

Tips

Because microsatellites are widely dispersed in eukaryotic genomes, are highly variable, and are PCR based (requiring only minute amounts of starting template) they have been used in many different areas of research such as:

Ä Forensics- Microsatellite loci, generally known in forensic applications as Short Tandem Repeat (STR) loci, are widely used for forensic identification and relatedness testing, and are a predominant genetic marker in this area of application. In forensic identification cases, the goal is typically to link a suspect with a sample of blood, semen or hair taken from a crime. Alternatively, the goal may be to link a sample found on a suspect's clothing with a victim. Relatedness testing in criminal work may involve investigating paternity in order to establish rape or incest. Another application involves linking DNA samples with relatives of a missing person. Because the lengths of microsatellites may vary from one person to the next, scientists have begun to use them to identify criminals and to determine paternity, a procedure known as DNA profiling or "fingerprinting". The features that have made use of microsatellites attractive are due to their relative ease of use, accuracy of typing and high levels of polymorphism. The ability to employ PCR to amplify small samples is particularly valuable in this setting, since in criminal casework only minute samples of DNA may be available.

Ä Diagnosis and Identification of Human Diseases- Because microsatellites change in length early in the development of some cancers, they are useful markers for early cancer detection. Because they are polymorphic they are useful in linkage studies which attempt to locate genes responsible for various genetic disorders.

Ä Population Studies- By looking at the variation of microsatellites in populations, inferences can be made about population structures and differences, genetic drift, genetic bottlenecks and even the date of a last common ancestor.

Ä Conservation Biology- Microsatellites can be used to detect sudden changes in population, effects of population fragmentation and interaction of different populations. Microsatellites are useful in identification of new and incipient populations.

Euchromatin is the region of DNA that is relatively Uncondensed

013. Euchromatin is the region of DNA that is relatively:

1. Uncondensed.

2. Condensed.

3. Overcondensed.

4. Partially condensed.

Answers

1. Uncondensed.

Reference:

Gray 38^th Edition Page 50

Harper 26^th Edition page 316

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DNA is organized in chromosomes by a heterogeneous set of proteins to form a DNA-protein complex which is called chromatin. The protein constituents of chromatin are the histones and the non-histone proteins. The latter group of proteins is extremely heterogeneous and includes DNA and RNA polymerases, gene regulatory proteins and high-mobility group proteins (HMG proteins). However, the histones are the most abundant group of proteins in chromatin and they are primarily responsible for the 'packaging' of chromosomal DNA (see below). There are five histone proteins: H1, H2A, H2B, H3 and H4, and the last four of these combine to form a compact granule, the nucleosome core. A nucleosome core is a histone octomer comprising two each of the H2A, H2B, H3 and H4 proteins. The DNA molecule winds twice around each nucleosome core in such a manner that 146 nucleotide pairs are organized around it (2.36). This packaging organizes the DNA into a chromatin fibre 11 nm in diameter and gives this form of chromatin the appearance of 'beads-on-a-string' in electron micrographs, with each 'bead' separated by a length of DNA about 50 nucleotide pairs long.

Explanation

When chromatin is arranged with the string of beads fully extended it is termed euchromatin and in this condition it is actively transcribed to form RNA.

Comments

Chromatin can also be highly folded by the aggregation of nucleosomes into spiral clusters (solenoids) about 30 nm thick rather than the 11 nm of the euchromatic form, or may form even thicker super-clusters. This is achieved by the binding together of H1 histones of adjacent nucleosomes.

Tips

Transcriptionally active chromatin is densely packed during interphase as observed by electron microscopic studies and

The long and short arms of chromosomes are designated respectively as q and p arms

012. The long and short arms of chromosomes are designated respectively as :

1. p and q arms.

2. m and q arms.

3. q and p arms.

4. l and s arms.

Answer

3. q and p arms.

Reference:

Robbins 7^th Edition Page 171

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Short arm of the chromosome is designated p (for petit) and the long arm is referred to as q (The next letter of alphabet)

Explanation

Self Explanatory

Comments

Petit means small in French

Tips

Chromosome Number	Type	Characteristic features
1–3	A	Large metacentric chromosomes
4–5	B	Large submetacentric chromosomes
6–12 + X	C	Metacentrics of medium size
13–15)	D	Medium-sized acrocentrics with satellites (and nucleolar organizing centres)
16–18	E	Shorter metacentrics (No. 16) or submetacentrics (Nos. 17 and 18)
19–20	F	Shortest metacentrics
21–22 + Y	G	Short acrocentrics, 21 and 22 with satellites (and nucleolar organizing centres), Y without satellites

Prenatal diagnosis at 16 weeks of pregnancy

011. Prenatal diagnosis at 16 weeks of pregnancy can be performed using all of the following, except:

1. Amniotic fluid.

2. Maternal blood.

3. Chorionic villi.

4. Fetal blood.

Answer

4. Fetal blood.

Reference

Dutta Obstetrics 4^th Edition Page 113

Nelson 15^th Edition Chapter 96

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The current protocols for fetal diagnosis include both noninvasive and invasive procedures. The invasive techniques include amniocentesis, cordocentesis (percutaneous umbilical blood sampling) and chorionic villus sampling. A common noninvasive technique is ultrasound.

Explanation

1. Amniocentesis is done during 14 to 16 weeks and early amniocentesis during 10 to 14 weeks.

2. Maternal blood can be used for diagnosis at any time in the pregnancy.

3. Chorionic villi sampling is done by transcervical route from 10 to 12 weeks and transabdominal route from 10 weeks to term.

4. Fetal blood obtained by percutaneous umbilical blood sampling is performed under local anaesthetics usually after 18 weeks of gestation.

Comments

However, Nelson gives that “Cordocentesis is usually performed after 15 wk using high-resolution ultrasound.” Hence if we go by Nelson, prenatal diagnosis at 16 weeks of pregnancy can be performed using ALL of the following with no exceptions

Tips

We arrive at our answer using Dutta as the answer

Polar bodies are formed during Oogenesis

010. Polar bodies are formed during :

1. Spermatogenesis.

2. Organogenesis.

3. Oogenesis.

4. Morphogenesis.

Answer

3. Oogenesis.

Reference

Gray 38^th Edition Page 123

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The poles of the spindle in oöcytes lack centrioles and are composed of pericentriolar material. As anaphase approaches, the homologous pairs of chromosomes move towards the poles of the spindle. A bulge forms at the site of the spindle which is destined to become the first polar body. The midbody forms around the spindle and initiates cleavage of the first polar body and final separation of the homologous chromosomes occurs. Unlike the equal division of the nucleus, the division of the cytoplasm is highly unequal, the polar body carrying with it its numerically equal chromosomal complement and an exiguous share of the cytoplasm. (The first polar body is occasionally seen to cleave into two equal fragments before degenerating sometime after ovulation.)

Comments

The oöcyte resulting from this reduction division is known as the secondary oöcyte; it contains 23 double-stranded chromosomes. In the absence of an interphase the chromosomes are rearranged around the equator of a second spindle. At metaphase of the second meiotic division the secondary oöcyte arrests until fertilization or parthenogenetic activation stimulates the completion of meiosis which is marked by extrusion of the second polar body.

Tips

Accumulation of lecithin like substance the deutoplasm within the cytoplasm of oocytes makes the nucleus eccentric in position. This explains why in female, the primary oocyte gives rise to a single mature ovum with the extrusion of first and second inactive polar bodies in the process of maturation of female gametes. But in similar process of maturation of male gametes, one primary spermatocyte gives rise to four active spermatids because nucleus of the primitive male sex cells is central in position.

Mitochondrial DNA is Closed circular

009. Mitochondrial DNA is :

1. Closed circular.

2. Nicked circular.

3. Linear.

4. Open circular.

Answer

1. Closed circular.

Reference

The Molecular Biology of Plant Mitochondria edited by Charles S Levings III, Indra K Vasil

Ganong 22^nd Edition Page 10

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Small circular DNA occur in two forms

1. The closed, supercoiled conformation
2. The open, nicked form

Explanation

Mitochondrial DNA (mtDNA) is a small (16.5kb), closed-circular molecule of DNA that exhibits a strict maternal transmission and is present within cells in multiple copies.

Comments

In addition, many of the proteins responsible for the maintenance, replication and transcription of the mitochondrial genome are nuclear encoded and as such the genetic defect in patients with mitochondrial disorders may occur in either the mitochondrial or nuclear genome

Tips

The presence of many hundreds or thousands of copies of mtDNA within each cell plays an important role in the expression of a pathogenic mutation in terms of a biochemical and clinical phenotype. Homoplasmy describes the situation where all mtDNA copies are identical within a cell. In contrast to this, the majority of patients with pathogenic mtDNA mutations harbour a mixture of wild-type and mutant mtDNA within each cell, the phenomenon of heteroplasmy [Lightowlers et al, 1997]. For any heteroplasmic mutation, the proportion of mutant mtDNA molecules in a cell typically exceeds a critical threshold before a biochemical defect is apparent. At mitosis, mutant and wild type mtDNA is believed to be randomly segregated to each of the daughter cells, affecting both mitochondrial disease expression and inheritance as it will lead to different percentage levels of mutant mtDNA between tissues, whole organs and even individuals. Since higher levels of heteroplasmic, pathogenic mtDNA mutations accumulate in post-mitotic tissues such as skeletal muscle (which is often a clinically-affected tissue), the majority of diagnostic tests for mtDNA mutations are usually performed using DNA extracted from this tissue. Nevertheless, some mutations can reliably be detected in blood.

Widely spaced eyes, increased facial hair and deafness

008. In a family, the father has widely spaced eyes, increased facial hair and deafness. One of the three children has deafness with similar facial features. The mother is normal. Which one of the following is most likely pattern of inheritance in this case ?

1. Autosomal dominant.

2. Autosomal recessive.

3. X-linked dominant.

4. X-linked recessive.

Answer

???

Reference:

Harrison 16^th Edition Page 374

Robbins 7^th Edition Page 150

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We have few details

1. The father is affected
2. Mother is not affected
3. one among three Children are affected (2 not affected)

Now let us consider the following possibilities

1. The disease is transmitted in an Autosomal dominant fashion
2. The disease is transmitted in an Autosomal Recessive forms
3. The disease is transmitted in a X-linked dominant form
4. The disease is transmitted in a X-linked recessive form

We proceed to work out the possibility of an affected father and a normal mother in each of the four instances and look what we get

Autosomal Dominant

If the disease is transmitted in an Autosomal Dominant form (A-diseased and a-not diseased) then the Father will be of either AA or Aa (not aa) and the mother aa

If father is AA and mother aa, the offsprings will be

1. Aa – 100 % - affected

If father is Aa and mother aa, the offsprings will be

1. Aa – 50 % affected
2. aa – 50 % not affected

Autosomal recessive

If the disease is transmitted in an Autosomal recessive form (A-not diseased and a-diseased), then the affected father will be of aa and the mother can be AA or Aa (not aa).

If father is aa and mother AA, the offsprings will be

1. aA – 100 % not affected, (but carriers)

If father is aa and mother Aa, the offsprings will be

1. aA – 50% not affected, carrier
2. aa – 50% affected

X-linked Dominant

If the disease is transmitted in a X-linked Dominant form(X-diseased and x-not diseased), then the affected father will be of XY (and not xY) and the mother will be xx (and not XX or Xx).

If father is XY and mother xx, the offsprings will be

1. Xx – 50 % affected Girl
2. Yx – 50 % a normal boy

X-linked Recessive

If the disease is transmitted in a X-linked Recessive form (X-not diseased and x-diseased), then the father has to be xY and the mother XX or Xx.

If father is xY and mother XX, the offsprings can be

1. xX – 50 % - girl - not affected
2. YX – 50 % - boy -not affected

If father is xY and mother Xx, the offsprings can be

1. xX – 25 % - girl – not affected
2. xx– 25 % -girl - affected
3. YX– 25 % - boy – not affected
4. Yx– 25 % - boy – not affected

So, in all four conditions, we have a scenario where few children are affected and few children are not affected.

Explanation

Thus we are not able to come to a conclusion with the given data

Comments

If the girl children are affected and the boy children are normal, then we can go for x-Linked Dominant

small head, minor anomalies of the face including a thin upper lip, growth delay, and developmental disability

007. A child with a small head, minor anomalies of the face including a thin upper lip, growth delay, and developmental disability can have all of the following, except:

1. A chromosomal syndrome.

2. A teratogenic syndrome.

3. A Mendelian syndrome.

4. A polygenic syndrome.

Answer

4. A polygenic syndrome.

Reference

Nelson 15^th Edition Chapter 92

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Ä Filippi syndrome is characterized by low birthweight, congenital microcephaly, broad nasal bridge, thin alae nasi, thin upper lip, soft tissue syndactyly of hands and feet, and severe mental retardation. Autosomal recessive inheritance is likely, but not proven.

Ä The characteristics of the fetal alcohol syndrome include (1) prenatal onset and persistence of growth deficiency for length, weight, and head circumference; (2) facial abnormalities, including short palpebral fissures, epicanthal folds, maxillary hypoplasia, micrognathia, and thin upper lip; (3) cardiac defects, primarily septal defects; (4) minor joint and limb abnormalities, including some restriction of movement and altered palmar crease patterns; and (5) delayed development and mental deficiency varying from borderline to severe. Fetal alcohol syndrome is a common cause of mental retardation. The severity of dysmorphogenesis may range from severely affected infants with full manifestations of the fetal alcohol syndrome to those mildly affected with only a few manifestations.

Ä Miller-Dieker Lissencephaly Syndrome (MDLS) A chromosomal syndrome of chromosome 7 represented by 46, XX, der(17)t(7;17)(p22.3;p13.2). ish der(17)(D17S379-, RARA+) presents with typical facies (bitemporal hollowing, thin downturned upper lip, micrograthia; micocephaly, high arched palate), ventricular septal defect

Ä Another chromosomal syndrome represented by 46, XY, der(7)t(2;7)(q3?;p22) de novo presents with craniosynostosis, scaphocephaly, trigonocephaly, upslanting palpebral fissures, low set & poorly lobulated ears, large mouth with thin upper lip, short neck, wide-set hypoplastic nipples, small penis, hypospadias, general hypotonia, abnormal fingers and feet, and the child died at 2.5 years of age

Explanation

1. Miller-Dieker Lissencephaly Syndrome (MDLS) is a chromosomal syndrome.

2. fetal alcohol syndrome is a teratogenic syndrome.

3. Filippi syndrome is a Mendelian syndrome.

Comments

Any how, if you search the databases, you can even find a number of polygenic syndromes with the features given above

Tips

We can be sure of the answer only if we know the exact reference for this answer