1.
Indian Pediatr
;
2011 May; 48(5): 399-401
Article
Dans Anglais
| IMSEAR
| ID: sea-168840
Résumé
We report a case of partial monosomy 7q and partial trisomy 14q in a 4 year old male with microcephaly, prominent eyes, arched eyebrows, malformed ears and overlapping of toes. The unbalanced rearrangement resulted in monosomy of 7q33qter and trisomy of 14q32.2qter. The clinical phenotype was similar to the other cases of 7q deletion.