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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 7q33qter and trisomy of 14q32.2qter. The clinical phenotype was similar to the other cases of 7q deletion.

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