Downs syndrome

Q:1
A 4 year old boy presented with chronic constipation. If you suspect
Hirschsprung's disease, which of the following statements are incorrect?
A: Delayed (>24 h) meconium
B: Functional constipation
C: Affected sibling
D: Associated with Down’s Syndrome
Correct Ans:B
Explanation
Constipation in Hirschsprung’s disease is organic not functional.
“Red flags” for Hirschsprung’s disease
Delayed (>24 h) meconium—Present in 7087% of cases of Hirschsprung’s
disease and in <1% of normal children
Neonatal constipation—Present in 9095% of cases but in <7% of children with
functional constipation
Family history (affected sibling)—Present in 1233% of cases
Poor growth—Present in 2530% of cases
Abdominal distension—Present in 7685% of cases but in 20% of patients with
functional constipation
Down’s syndrome and other chromosomal anomalies—Hirschsprung’s disease is
present in 1.5% of patients with Down’s syndrome, but 510% of patients with
Down’s have functional constipation
Ref:
1. Singh SJ, Croaker GDH, Manglick P, Wong CLH, Athanasakos H, Elliott E, et al.
Hirschsprung’s disease: the Australian Paediatric Surveillance Unit’s experience. Ped
Surg Int2003;19:24750.
2. National Institute for Health and Clinical Excellence. Diagnosis and management of
idiopathic childhood constipation in primary and secondary care. (Clinical guidance 99.)
2010.
3.Hirschsprung’s disease, C Powell ; BMJ 2012;345:e5521.
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Q:2 A patient of 47 XXY karyotype presents with features of hypogonadism; likely
diagnosis is:
A: Turners syndrome
B: Klinefelters syndrome
C: Edwards syndrome
D: Down syndrome
Correct Ans:B
Explanation

The most common pattern Klinefelter’s Syndrome is 47 XXY (other include
46,XY/47,XXY mosaicism).
Ref: Male Hypogonadism: Basic, Clinical and Therapeutic Principles By Stephen J.
Winters, 2004, Page 159 ; Harrison’s Principles of Internal Medicine, 14th Edition,
Page 2120 and 15th Edition, Page 2174
Q:3 Which among the following can cause congenital heart block?
A: Maternal SLE
B: Down’s syndrome
C: Edward’s syndrome
D: Phenylketonuria
Correct Ans:A
Explanation
SLE with high SSA titer is said to predispose to congenital heart
block in the child.
Complete atrioventricular block (CAVB) occurs in as many as 5%
of children born to mothers with antiRo antibody, which can be
seen with subclinical or clinical maternal lupus erythematosus,
maternal Sjögren syndrome, or another maternal autoimmune
disease. After birth, the children may present with varying
degrees of heart block, including CAVB, cardiomyopathy, and
other manifestations of neonatal lupus syndrome. However, the
majority of infants who are born to these mothers do not
manifest AV block.
Hereditary diseases such as Hurler cardiomyopathy and Hunter
cardiomyopathy can be associated with CAVB.
Q:4
A 1 yr old child is with normal intelligence with features of hypotonia. On
examination there are tongue fasciculations and he keeps his body in a frog like
position and also loss of reflexes. Give the most probable diagnosis?
A: Guillain Barre Syndrome
B: Limb girdle atrophy
C: Down’s syndrome
D: Spinal muscular atrophy
Correct Ans:D

Explanation
Spinal muscular atrophy type 1 (WerdnigHoffman disease) is the most common cause
of a floppy infant syndrome. Children may attain typical "frog posture" or other
postures on rest. Spinal muscular atrophy (SMA) is an autosomal recessive
neuromuscular disorder in which anterior horn cells in the spinal cord degenerate.
Three clinical subtypes are recognized:
SMA I: The most devastating. Mild weakness may be present at birth but is clearly
evident by 3 months and is accompanied by loss of reflexes and fasciculations in
affected muscles. Progression of the disorder leads to eventual respiratory
failure, usually by age 1 year.
SMA II: Symptoms of SMA II begin later, with weakness and decreased reflexes
generally apparent by age 2 years.
SMA III: Children affected with SMA III begin to become weak as they approach
adolescence.
Ref: Tsaic A.C., Manchester D.K., Elias E.R. (2012). Chapter 37. Genetics &
Dysmorphology. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer
(Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.
Q:5 Transient myeloproliferative disorder of the newborn is usually seen with:
A: Turner syndrome
B: Neurofibromatosis
C: Downs syndrome
D: Ataxia telangiectasia
Correct Ans:C
Explanation
Neonates with Down syndrome are prone to develop transient leukemia or
myeloproliferative syndrome characterised by high leukocyte count, blast cells in the
peripheral blood, and associated anemia, thrombocytopenia, and hepatomegaly.
Ref: Kliegman, Behrman, Jenson, Stanton (2008), Chapter 495, “Lymphoma”, In the book,
“NELSON TEXTBOOK OF PEDIATRICS”, Volume 2, 18th Edition, New Delhi, Page 2122.
Q:6
All of the following genetic syndromes are associated with Acute Myeloid
Leukemia, except:
A: Down's Syndrome
B: Klinefelter's Syndrome
C: Patau Syndrome
D: Turner's Syndrome

Correct Ans:D
Explanation
Of all the options given Turner’s syndrome is not found to be associated with increased
incidence of acute myeloid leukemia (AML). Down's syndrome, Klinefelter's Syndrome,
Patau Syndrome are associated with AML.
Ref: Harrison’s Principles of Internal Medicine16th Edition, Page 631; Excellent Care
for Cancer Survivors: A Guide to Fully Meet Their Needs By Kenneth Miller – Pg
327; Childhood Leukemia: A Practical Handbook, By Gregory H. Reaman – Pg 11

Q:7 Transient myeloproliferative disorder of the newborn is usually seen with:
A: Turner syndrome
B: Neurofibromatosis
C: Downs syndrome
D: Ataxia telangiectasia
Correct Ans:C
Explanation
Neonates with Down syndrome are prone to develop transient leukemia or
myeloproliferative syndrome characterised by high leukocyte count, blast cells in the
peripheral blood, and associated anemia, thrombocytopenia, and hepatomegaly.
Ref: Kliegman, Behrman, Jenson, Stanton (2008), Chapter 495, “Lymphoma”, In the book,
“NELSON TEXTBOOK OF PEDIATRICS”, Volume 2, 18th Edition, New Delhi, Page 2122.
Q:8 Which is the most common chromosomal anomaly seen?
A: Down’s syndrome
B: Turner’s syndrome
C: Kinfelter’s syndrome
D: Edward’s syndrome
Correct Ans:A
Explanation
Down syndrome is by far the most common and best known chromosomal disorder in
humans and the most common cause of intellectual disability. It is characterized by
mental retardation, dysmorphic facial features, and other distinctive phenotypic traits.

Down syndrome is primarily caused by trisomy of chromosome 21; this is the most
common trisomy among live births. 21 trisomy is a result of maternal nondisjunction.
Q:9
A male child presented with cryptorchidism, mental retardation and pulmonary
stenosis. He has normal karyotype. Which of the following is the diagnosis?
A: Noonan’s syndrome
B: Turner’s syndrome
C: Down’s syndrome
D: Angelmann’s syndrome
Correct Ans:A
Explanation
The karyotype is normal and it is a male child so the diagnosis is
Noonan’s syndrome.
Noonan syndrome have normal karyotypes and it is an important
distinction with Turner's syndrome. Mutations in the RASMAPK
signaling pathway are responsible for Noonan syndrome. The
cardinal features of Noonan syndrome include unusual facies (ie,
hypertelorism, downslanting eyes, and webbed neck),
congenital heart disease (in 50%), short stature, and chest
deformity. Approximately 25% of individuals with Noonan
syndrome have mental retardation. Bleeding diathesis is present
in as many as half of all patients with Noonan syndrome.
Q:10
Physical examination of a neonate is remarkable for a holosystolic murmur.
There is no cyanosis.Echocardiography demonstrates an ostium primum defect in
the lower part of the interatrial septum that is accompanied by malformations of
the adjacent atrioventricular valves. These lesions are most likely associated
with which of the following disorders?
A: Cystic fibrosis
B: Down syndrome
C: Gaucher disease
D: Marfan syndrome
Correct Ans:B
Explanation
The most common type of atrial septal defect is the ostium secundum type. Children
with Down syndrome, however, are frequently afflicted with the ostium primum type of
atrial septal defects, which may be accompanied by tricuspid and mitral valve

malformations. More complex atrioventricular septal defects may also occur in this
disorder. Children exhibiting these lesions should be specifically evaluated for
chromosomal abnormalities. Clinically, the lesions produce lefttoright shunts with late
cyanosis (after the right ventricle hypertrophies in response to developing lung disease
from the increased blood flow in the pulmonary system).
Neither cystic fibrosis nor Gaucher disease is specifically associated with cardiovascular
defects.

Dissecting aortic aneurysm is associated with Marfan syndrome .

Ref: Tsaic A.C., Manchester D.K., Elias E.R. (2012). Chapter 37. Genetics &
Dysmorphology. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer
(Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.
Q:11
Physical examination of an infant delivered to a 42 year old, gravida 3, para 2,
woman, is remarkable for slight hypotonia and a poor Moro reflex. Further
examination reveals upslanting palpebral fissures, epicanthal folds, excess
nuchal skin, an enlarged tongue, clinodactyly of the fifth fingers, and a single
transverse palmar crease. Which of the following is the most likely diagnosis?
A: Down syndrome
B: Edwards syndrome
C: Fetal alcohol syndrome
D: Marfan syndrome
Correct Ans:A
Explanation
Down syndrome, or trisomy 21, is the most common autosomal chromosome
abnormality. The incidence increases as maternal age increases. The classic features
are hypotonia, upslanting palpebral fissures, epicanthal folds, excess nuchal skin, an
enlarged tongue, clinodactyly of the fifth fingers, and a single transverse palmar
crease.

Edwards syndrome or trisomy 18, has features of small palpebral fissures, lowset ears,
low birth weight, microcephaly, rockerbottom feet, cleft lip, hypotonia, and clenched
hands.

Fetal alcohol syndrome is characterized by growth retardation, small palpebral fissures,
smooth philtrum, a thin upper lip, microcephaly, and a short nose. Features often go
unnoticed in the newborn period, although sometimes tremulousness and irritability
occur.

Marfan syndrome is associated with increased stature, thin limbs, scoliosis, joint
hypermobility, and ocular manifestations. Features often go unnoticed in the newborn
period.

Ref: Hauk P.J., Johnston, Jr. R.B., Liu A.H. (2012). Chapter 33. Immunodeficiency. In
W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer (Eds),CURRENT
Diagnosis & Treatment: Pediatrics, 21e.

Q:12 Which of the following conditions is not diagnosed by Chorionic Villous Biopsy?
A: Neural tube defects
B: Down's syndrome
C: Phenylketonuria
D: Sickle cell anemia
Correct Ans:A
Explanation
Chorionic villi are an excellent source of DNA thus apt for genetic techniques. It aids in
the prenatal diagnosis of genetic disorders. Chorionic villous sampling is used to detect
cytogenetic, biochemical (genetic) or molecular disorders. Neural tube defects are not
associated with any of the above and hence not detected by chronic villous biopsy.
Ref: Dutta textbook of Obstetrics 6th edition; Page 108
Q:13 Increased Nuchal Translucency at 14 weeks gestation is seen in:
A: Turner's syndrome
B: Down's syndrome
C: Hydrocephalus
D: Skeletal Dysplasia
Correct Ans:B
Explanation
Increased nuchal translucency at 1114 weeks of gestation is seen most commonly in
trisomies. Many component proteins of extracellular matrix are encoded on
chromosome 13,18,21. Altered composition of extracellular matrix account for the
increased nuchal translucency in the trisomies of these chromosomes.

Ref: William's Obstetrics, 23rd Edition, Pages 295, 351; Donald School Textbook of
Ultrasound in Obstetics and Gynecology, 2nd Edition, Pages 183, 184; Ultrasound in

Obstetrics and Gynaecology By Merz and Bohimann, 2nd Edition, Page 11; Diagnostic
Imaging of Fetal Anomalies By David A. Nyberg, John P. McGahan, Pages 8458.

Q:14 Alpha feto protein levels are increased in all, EXCEPT:
A: Open neural tube defects
B: Twin pregnancy
C: Down's syndrome
D: Intrauterine death
Correct Ans:C
Explanation
MSAFP above normal is seen in multiple gestation, when there is placental abruption,
as well as in a number of fetal abnormalities, such as neural tube defects including
spina bifida and anencephaly, and abdominal wall defects. Other possibility is error in
the date of the gestation. Mothers with Methylene tetrahydrofolate reductase genetic
variant also have more frequent elevated MSAFP. Abnormally high levels were found
infrequently in fetal distress and intra uterine fetal death.
MSAFP below normal is associated with a smaller number of conditions, including Down
syndrome and Trisomy 18.
Q:15 A primigravida with abnormal sonographic findings found to have decreased
alpha fetoprotein (AFP) levels. The fetus may have:
A: Anencephaly
B: Anterior abdominal wall defects
C: Renal anomalies
D: Down's syndrome
Correct Ans:D
Explanation
AFP is synthesized early in gestation by the fetal yolk sac and later by the fetal
gastrointestinal tract and liver. The normal concentration gradient between fetal
plasma and maternal serum is on the order of 50,000:1.
Low Levels of AFP seen in:
Obesity
Diabetes
Chromosomal trisomies

Gestational trophoblastic disease
Fetal death
Overestimated gestational age
Selected conditions with high levels of AFP:
Underestimated gestational age
Multifetal gestation
Neuraltube defects
Gastroschisis
Omphalocele
Low maternal weight
Liver necrosis
Renal anomalies—polycystic kidneys, renal agenesis
Osteogenesis imperfecta
Ref: Cunningham F.G., Leveno K.J., Bloom S.L., Hauth J.C., Rouse D.J., Spong C.Y.
(2010). Chapter 13. Prenatal Diagnosis and Fetal Therapy. In F.G. Cunningham, K.J.
Leveno, S.L. Bloom, J.C. Hauth, D.J. Rouse, C.Y. Spong (Eds), Williams Obstetrics, 23e.
Q:16
A child presents with antimongoloid slant, pulmonary stenosis, short stature
and undescended testis. The most likely diagnosis is:
A: Klinefelter syndrome
B: Noonan syndrome
C: Turner syndrome
D: Down syndrome
Correct Ans:B
Explanation
[Noonan syndrome]
Noonan syndrome Autosomal dominant gene with variable expressivity, the gene has
mapped to chromosome 12q. Most common abnormalities are short stature, webbing
of neck, pectus carinatum or pectus excavatum, cubitus valgus, right sided congenital
heart disease
·Hypertelorism, epicanthus, downward slanted palpebral fissure, ptosis,
micrognathia and ear abnormality
·Clinodactyly, moderate mental retardation, high frequency sensorineural
hearing loss is common
·The cardiac defect Q is most often pulmonary valvular stenosis, hypertrophic
cardiomyopathy or ASD
·Low clotting factors XI or XII, ALL and CML have been described
·A few patient with neurofibromatosis I and features of Noonan syndrome were
subsequently reported as
havinq Turner syndrome, Male frequently have Cryptorchidism and small
testes, they may be hypogonadal or
normal.

Q:17 Anomaly associated with duodenal atresia is?
A: Down syndrome
B: Duodenal adenomas
C: Limb defects
D: Autoimmune disorders
Correct Ans:A
Explanation
Down syndrome REF: Sabiston 18'h ed chapter 71
Duodenal atresia (DA) is thought to occur as a result of failure of vacuolization of the
duodenum from its solid cord stage. The range of anatomic variants includes duodenal
stenosis, mucosal web with intact muscular wall (socalled windsock deformity); two
ends separated by a fibrous cord, or complete separation with a gap within the
duodenum.
Associated Anomalies: DA is associated with several conditions, including prematurity,
Down syndrome, maternal polyhydramnios, malrotation, annular pancreas, and biliary
atresia. Other anomalies, such as cardiac, renal, esophageal, and anorectal anomalies,
are also common. In most cases, the duodenal obstruction is distal to the ampulla of
Vater, and infants present with bilious emesis in the neonatal period. In patients with
a mucosal web, the symptoms of postprandial emesis may occur later in life.
Diagnosis: The classic plain abdominal radiograph of DA is termed the doublebubble
sign (airfilled stomach and duodenal bulb, In cases in which there is no distal air, the
diagnosis is secured, and no further studies are necessary. On the other hand, if distal
air is present, an upper gastrointestinal contrast study is performed fairly rapidly.
This study is important not only to confirm the diagnosis of duodenal stenosis or
atresia but also to exclude midgut volvulus, which would constitute a surgical
emergency.
Treatment: The management of DA is by surgical bypass of the duodenal obstruction
as either a sidetoside or proximal transverse—to—distal longitudinal (diamond
shaped) duodenoduodenostomy.
Q:18
A married middle aged female gives history of repeated abortions for the past 5
years. The given below is conceptions prenatal karyogram. This karyogram suggests
the following
A: Klinefelter's syndrome

B: Turner's syndrome
C: Down's syndrome
D: Patau's syndrome
Correct Ans:C
Explanation
Ans. is 'c' i.e., Down's syndrome
Most common chromosomal abnormalies causing abortion are chromosomal trisomy.
Trisomy 21 is synonymous with down's syndrome and is the most common of the
chromosomal disorders
Trisomy 21                            DOWN SYNDROME
Trisomy 18                            EDWARD SYNDROME
Trisomy 13                            PATAU SYNDROME
Q:19 Glomerulonephritis associated with sensory neural deafness are features of
A: Alport's syndrome
B: Nail patella syndrome
C: Down's syndrome
D: Fabry's syndrome
Correct Ans:A
Explanation
Ans. is 'a' i.e., Alport's syndrome
Alport's syndrome
o Alport's syndrome is a type of hereditary nephritis characterized by ?
(i)       Glomerulonephritis progressing to chronic renal failure.
(ii)      Nerve deafness
(iii)     Eye defects —> lenticonus, lens dislocation, posterior cataract, conical
dystrophy.
Most commonly it is inherited as Xlinked form.
Rare autosomal recessive and autosomaldominant pedigrees also exist.
Pathogenesis

o There is defective GBM synthesis because of production of abnormal collagen type
IV underlies the renal lesions. o The defect is caused by mutation in the gene encoding
a5chain of collagen type IV.

Downs syndrome

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