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 trisomy 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) (q23.1;q34). In addition to the recognized features of trisomy 10q syndrome, our patient demonstrated certain specific abnormalities which have not been previously described in this syndrome. These were bilateral large pterion, bilateral small asterion, clitoromegaly, and complete absence of the hymen. In most previously described cases of trisomy 10q, the duplicated section started at 10q24. It is suggested that the additional features in this patient may be attributed to the extra duplicated chromosomal material in 10q23.1-->10q24.
Halpern
G J
GJ
Department of Medical Genetics, Beilinson Medical Center, Petah Tiqva, Israël.
Shohat
M
M
Merlob
P
P
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics / Q000648:ultrastructure*; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D002972:Cleft Palate / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy