PARTIAL TRISOMY 10Q - FURTHER DELINEATION OF THE CLINICAL MANIFESTATIONS INVOLVING THE SEGMENT 10Q23-]10Q24

We describe a postterm female infant with multiple anomalies who had t risomy 10q23.1 --> 10q26. The patient had an unbalanced translocation inherited from her father who is a balanced carrier with the karyotype 46,XY,t (10;13) (q2.1;q34). In addition to the recognized features of trisomy 10q syndrome, our patient demonstrated certain specific abnor malities which have not been previously described in this syndrome. Th ese were bilateral large pterion, bilateral small asterion, clitoromeg aly, and complete absence of the hymen. In most previously described c ases of trisomy 10q, the duplicated section started at 10q24. It is su ggested that the additional features in this patient may be attributed to the extra duplicated chromosomal material in 10q23.1-->10q24.