If a female individual is with small round head, furrowed tongue, partially open mouth and broad palm with characteristic palm crease. Also the physical, psychomotor and mental development is retarded. The karyotype analysis of such an individual will show :
47 chromosomes with XXY sex chromosomes
45 chromosomes with XO sex chromosomes
47 chromosomes with XYY sex chromosomes
Trisomy of chromosome 21
The symptoms described (small round head, furrowed tongue, partially open mouth, broad palm with characteristic palm crease, and retarded development) are strictly characteristic of Down’s syndrome . This genetic disorder is caused by the presence of an additional copy of chromosome number 21 (aneuploidy), known as trisomy of 21 . Option 1 (47, XXY) refers to Klinefelter’s Syndrome and Option 2 (45, XO) refers to Turner’s Syndrome.
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