Expression of fragile Xq 27.3 in a patient with clinical features of deletion 9p syndrome.

The propositus was a 12-month-old male born to non consanguineous parents at 3rd full term breech delivery. His weight was 7.4 kg, height was 65.5 cm and head circumference was 39 cm. The clinical examinations showed the features of deletion 9p syndrome, viz., trigonocephaly, flat nasal bridge, anteverted nares, long philtrum, wide spaced nipples, micrognathia, short stubby hands and the features of fragile X syndrome like enlarged ears, odd facies {Fig. la). Metacarpal index appeared less (3.8) compared to the normal metacarpal index which is 5.3 for the average age of 12 months (Fig. lb).