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Browse through thousands of multiple-choice question quizzes and expand your knowledge! MCQs are a great way to prepare for your incoming exams!

Human Genetics and Dysmorphology Part I

You are evaluating a 2-month-old baby boy with recurrent chest infections, cleft palate, right sided aortic arch, and absent thymic shadow on CXR. He could be nominated as having one of the following syndromes EXCEPT

Explanation

ExplanationAll except E represent a continuum of findings, virtually due to the chromosome 22q deletion. Common features include clefting of the palate with velopharyngeal insufficiency; conotruncal cardiac defects (including truncus arteriosus, ventriculoseptal defect, tetralogy of Fallot, and right sided aortic arch); and a characteristic facial appearance, including a prominent nose and a broad nasal root. Speech and language difficulties are common, as is mild intellectual impairment. About 70% have immunodeficiencies, largely related to T-cell dysfunction. A wide spectrum of psychiatric disturbances, including schizophrenia and bipolar disorder, has been seen in more than 33% of affected adults.

Human Genetics and Dysmorphology Part I

All the following are characteristic features of Williams syndrome EXCEPT

Explanation

ExplanationWilliams syndrome resulted from small deletion of chromosome 7q. Moderate intellectual disability (average IQ in the 50 to 60 range) is common, but developmental testing reveals strength in personal social skills and deficiencies in cognitive areas. Individuals with Williams syndrome often have a striking personality (cocktail party personality). However, approximately 10% of children with Williams syndrome have features of autism spectrum disorder. Patients occasionally have unusual musical ability (about 20% have absolute or perfect pitch).

Human Genetics and Dysmorphology Part I

Of the following, the one which carries the higher rate of congenital heart disease is

Explanation

ExplanationIn Turner syndrome about 50%, Williams syndrome 80% (supravalvar aorticvalve and pulmonic-valve stenosis and peripheral pulmonic stenosis being the most common anomalies), Down syndrome 50%, Low rate in Cri du Chat syndrome (around 15-20%) and as in general population with Klinefelter syndrome.

Human Genetics and Dysmorphology Part I

You are evaluating a small for gestational age neonate; you find the following features: hypertonia, prominent occiput, short sternum, and clenching of fists.

Explanation

ExplanationIn Edward syndrome, you find also rocker-bottom feet, hypoplastic nails, and characteristic clenching of fists—the second and fifth digits overlap the third and fourth digits.

Human Genetics and Dysmorphology Part I

You are evaluating a neonate with multiple dysmorphic features, you find him small for gestational age, microcephalic, single nostril, postaxial polydactyly and rocker-bottom feet. Of the following the MOST likely diagnosis is

Explanation

ExplanationIn Patau syndrome midline facial defects such as cyclopia (single orbit), cebocephaly (single nostril), and cleft lip and palate are common, as are midline central nervous system anomalies, such as alobar holoprosencephaly.

Human Genetics and Dysmorphology Part I

All the following are characteristic features of Turner syndrome EXCEPT

Explanation

ExplanationNormal IQ and life expectancy.

Human Genetics and Dysmorphology Part I

A fullterm baby with multiple congenital anomalies, his blood film reported nuclear projections in neutrophils. Of the following the MOST likely diagnosis is

Explanation

ExplanationThe MOST likely diagnosis is Patau syndrome.

Human Genetics and Dysmorphology Part I

All the following are recognized associations in infant with Down syndrome EXCEPT

Explanation

ExplanationIn children with DS younger than 2 year of age, the type is generally acute megakaryoblastic leukaemia; in individuals older than 3 years of age, the types of leukemia are similar to those of other children, with acute lymphoblastic leukemia being the predominant type.

Human Genetics and Dysmorphology Part I

A young parents with Down syndrome baby with Robertsonian translocation. Both did a chromosomal karyotype study. Of the following the MOST likely result is

Explanation

ExplanationIf the child has a robertsonian translocation, chromosomal analysis of both parents must be performed. In approximately 65% of cases, the translocation is found to have arisen de novo (i.e., spontaneously, with both parents having normal karyotypes), and in 35% of cases, one parent has a balanced translocation. The robertsonian translocation occurs in about 4.5% of cases of Down syndrome. The most common robertsonian translocation leading to DS involves chromosomes 14 and 21; standard nomenclature is 46,XX,t(14q21q) or 46,XY,t(14q21q).

Human Genetics and Dysmorphology Part I

A 15-day-old baby with Down syndrome, during routine blood testing found to have high leukocyte count (34,000), the baby otherwise is asymptomatic. Of the following, the MOST appropriate advice /action is

Explanation

ExplanationSome infants with DS show a leukemoid reaction, with markedly elevated white blood cell counts. Although this resembles congenital leukemia, it is a selflimited condition, resolving on its own over the first month of life.

Human Genetics and Dysmorphology Part I

Of the following, the test /study that is required to be done periodically in persons with Down syndrome (DS) is

Explanation

ExplanationFour percent to 18% of infants with DS are found to have congenital hypothyroidism, which is identified as part of the newborn screening program. Acquired hypothyroidism is a more common problem. Thyroid function testing must be monitored periodically during the child’s life.

Human Genetics and Dysmorphology Part I

Children with Down syndrome are most likely diagnosed clinically in the neonatal period. All the following are characteristic facial features EXCEPT

Explanation

ExplanationUp slanting palpebral fissures, epicanthal folds and large protruding tongue are additional facial features. Down slanting palpebral fissures is seen in Noonan syndrome.

Human Genetics and Dysmorphology Part I

A medical student is asking about the meaning of balanced translocation in parents who have baby with Down syndrome. Of the following, the TRUE statement is

Explanation

ExplanationSimply in balanced translocation (the parental side) the genetic material is normal in amount but abnormal in construction when the long arms (q) of two acrocentric chromosomes (numbers 13, 14, 15, 21, or 22) fuse at the centromeres, and the short arms (p), containing copies of ribosomal RNA, are lost. By this way no extra genetic material in parents. In robertsonian translocation (after conception), the chromosome which contains the genetic material of 2 chromosomes in the parent with balanced translocation, will be transmitted as one chromosome which leads to increase genetic material in offspring.

Human Genetics and Dysmorphology Part I

A young lady had aborted recently, part of consoling, you told her that there is possibility of chromosomal anomalies in an aborted fetus, that is actually true and it is equal to be about

Explanation

ExplanationFifty percent of spontaneous abortuses have chromosomal abnormalities, the most common being 45,X (TS); an estimated 99% of 45,X fetuses are spontaneously aborted. The fetal loss rate for Down syndrome, the most viable of the autosomal aneuploidies, approaches 80%.

Human Genetics and Dysmorphology Part I

The MOST useful way for confirmation of genetic defect in velocardiofacial (DiGeorge) syndrome is

Explanation

ExplanationFluorescent in situ hybridization (FISH) allows the identification of the presence or absence of a specific region of DNA.This technique is useful in Prader- Willi syndrome and Angelman syndrome, in which a deletion in a segment of 15q11.2 occurs, and in velocardiofacial (DiGeorge) syndrome, which is associated with a deletion of 22q11.2.

Human Genetics and Dysmorphology Part I

Of the following, the study that is MOST useful in diagnosis of an aneuploidy is

Explanation

ExplanationAneuploidy means problems with the chromosomal numbers, the basic and easiest and most useful test is chromosomal karyotype by using a cells which is able to divide as blood lymphocyte.

Human Genetics and Dysmorphology Part I

nsanguinity may increase the chance that a child will be born with a rare autosomal recessive (AR) condition. The risk of first cousins producing a child with an AR disorder is

Explanation

ExplanationIn some cultures, it is common for relatives to mate. This relatedness or consanguinity does not increase the likelihood of offspring having any particular single genetic disorder, but it may increase the chance that a child will be born with a rare autosomal recessive (AR) condition, as the mutated gene segregates through that family. Generally, the closer the relation between the partners, the greater the chance that the couple shares one or more mutated genes in common; increasing the risk that offspring will have an AR disorder.

Human Genetics and Dysmorphology Part I

The growing promising technique that is still in the research stage and being piloted in high-risk pregnancies for prenatal diagnosis is

Explanation

ExplanationAll are true and established screening prenatal tests but the evolving noninvasive (need only maternal blood sample) which can check fetal genome is D.

Human Genetics and Dysmorphology Part I

A 24-year-old pregnant lady in 2nd trimester comes to your clinic worried about her exposure to CXR done for suspicion of pneumonia last week; she is highly concerned about possibility of congenital anomalies. Of the following, the BEST advice to her is that

Explanation

ExplanationExposure to radiation causes microcephaly, mental retardation and skeletal malformations, these effects were manifested if the dose of radiation near 25 rad, while the dose from routine radiologic diagnostic examinations is in the millirad range (CXR=25 millirad).

Human Genetics and Dysmorphology Part I

Of the following, the first trimester non-invasive screening test with good detection rate for aneuploidy is

Explanation

ExplanationDuring the first trimester, measurement of a fluid collection of the posterior neck of the developing fetus is termed nuchal translucency. An increase in the nuchal translucency is a marker for chromosomal anomalies as well as genetic and structural abnormalities in the fetus. This association provided a noninvasive first trimester marker with detection rate for aneuploidy approached 70%. The quad screen is done in the second trimester. B & C options are both invasive and considerable risk of fetal loss. Option E along with free β-HCG and fetal nuchal translucency increases detection rate up to 90%.

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ramaabout 4 hours ago

Hey !! Anyone here is studying at UT Southwestern medical school?( USA> Dallas,Texas)

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Growth factors that stimulate of cell division during tissue repair, is released from? A. monocytes B. fibroblasts C. platelets D. macrophages

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Leen4 days ago

Growth factors that stimulate of cell division during tissue repair, is released from? A. monocytes B. fibroblasts C. platelets D. macrophages

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Does anyone have any instructional videos on bypass surgery that you can share?

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Echezona Chisolum Roseline6 days ago

This is a question for female surgeons Please how do you guys handle your periods when you have to perform a long surgery

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Risk factors, Clinicalmanifestation and Complications for children have Hypoxic ischemic encephalopathy??????? I want this

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DR.MOHAMMED IRFAN SHEIKH11 days ago

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