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Question
19 out of 23
 

Which of the following is not true: (AIIMS May 2013)



A Triploidy risk is not associated with increase maternal age.

B Trisomy 18 has a risk of mortality of 80%

C Trisomy 21 has a risk of mortality of 50%

D Risk of future pregnancy trisomy is 0.75% increase in case of Trisomy 21.

Ans. A

Triploidy risk is not associated with increase maternal age.

a. Risk of aneuploidy/trisomy increases with maternal age .

b. Trisomy 18 has a risk of mortality of 80% and more.

c. Trisomy 21 has a risk of mortality of 50%

1. Trisomy 18 (T18) or Edwards Syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. The incidenceof the syndrome is estimated as one in 3,000 live births The incidence increases as the mother's age increases.

2. Prognosis

The survival rate of Edwards Syndrome is very low. About 80-95% die in utero. Of liveborn infants, only 50% live to 2 months, and only 5–10% will survive their first year of life.

3. Features and characteristics:

Infants born with Edwards syndrome may have some or all of the following characteristics:

a. Kidney malformations,

b. structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), (omphalocele),

c. esophageal atresia,

d. mental retardation,

e. developmental delays,

f. growth deficiency,

g. feeding difficulties, breathing difficulties,

h. Arthrogryposis

i. Some physical malformations associated with Edwards syndrome include:

i. microcephalyaccompanied by a prominent occiput,

ii. low-set, malformed ears,

iii. abnormally small jaw (micrognathia),

iv. cleft lip/cleft palate,

v. upturned nose,

vi. narrow eyelid folds (palpebral fissures),

vii. widely-spaced eyes (ocular hypertelorism),

viii.drooping of the upper eyelids (ptosis),

ix. a short breast bone, x. clenched hands,

xi. underdeveloped thumbs and or nails,

xii. absent radius,

xiii. webbingof the second and third toes,

xiv.clubfootor Rocker bottom feet,

j. undescended testicles in males.

k. In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities.

l. The most common head shape anomaly is the presence of choroid plexus cysts, which is a pocket of fluid on the brain that is not problematic in itself but may be a marker for Trisomy 18.

4. Down's syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome.

Individuals with Down syndrome may have some or all of the following physical characteristics:

a. Oblique eye fissures with epicanthic skin folds on the inner corner of the eyes,

b. Muscle hypotonia (poor muscle tone),

c. A flat nasal bridge,

d. A single palmar fold,

e. A protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils),

f. A short neck,

g. White spots on the irisknown as Brushfield spots,

h. Excessive joint laxity including atlanto-axial instability,

i. Congenital heart defects,

j. Excessive space between large toeand second toe,

k. A single flexionfurrow of the fifth finger,

l. Higher number of ulnar loop dermatoglyph.

m. Most individuals with Down syndrome have mental retardationin the mild (IQ50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome typically 10–30 points higher.

5. Recurrence risk of down’s syndrome:

This depends on the age of mother at the time of birth of the affected child & her current age

a. If the women was less than 30 yrs age at the time of having first baby with down syndrome & is still under 30 years then the RECURRENCE RISK IS 2-3 %.

b. If she is now more than 30 yrs then the RR IS HER AGE RISK + 1%

c. If she was more than 30 years at the time of having first baby with down syndrome than the risk now is not higher than that of any other women of similar age.

Chromosome Constitution

Risk of offspring

Affected child

Father

Mother

Trisomy 21

Non Dysjunction type

Normal

Normal

Age = <30 years

Age = > 30 years

2-3 %

= Mother age+1%

Trisomy 21 due to

Normal

Carrier

11.9%

Uribalanced

Carrier

Normal

2-3%

Translocation (Viz 13/21, 14/21, 15/21, 22/21)

Trisomy 21 due to balanced translocation (21/21)

Normal

Carrier

Carrier

Normal

100%

100%

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