Partial monosomy 7q

Rajitha Ponnala, Ashwin Dalal
2011 Indian Pediatrics  
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.
pmid:21654006 fatcat:4fdeuftcrbdapklbus4btuskx4