GENETICS: Which blood test are you likely to prescribe? Describe the Karyotype f
ID: 98400 • Letter: G
Question
GENETICS:
Which blood test are you likely to prescribe?
Describe the Karyotype from this new born, and the recommended management in this case?
CLINICAL GEN CAL GENETICS PROBLEM OSOMAL MODIFICATIONS CHROMOSOMAL ed from 46 years old woman is born. Examinat ed face, with eyes wide Cardiac examination reveals a holosistolic A baby delivered fro has a flattened face, each hand. Cardiac examination septum defect, based on these baby with a chromosomal abnormality CASE 1 ars old woman is bom. Examination reveals that the baby baby delivered from 46 years old wo canthal lexion, and palmar cest.in separated, epicanthal flexion, and palmar crest in als a holosistolic murmur related to a ventricular based on these tindings you are almost sure that you have received a murmur related Based on these findings, which blood test are you likely to prescribe? e the next page please describe the karyotype from this new-bom, and the recommended management in this situation: 10 11 12 18 17 16 13 14 15 X Y 21, 22 19 20Explanation / Answer
From the above finding and physical features of baby we can say that the baby is suffering from genetic disorder Down syndrome included symptoms of flat face, wide set eyes.
In the above case trisomy 21 karyotype test is recommended because at 21 chromosomes three copies of chromosomes are present instead of two copies of chromosomes generally caused due to non disjunction of chromosomes correctly and these extra set of chromosomes are over expressed causing the Down syndrome.
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