Partial Monosomy 7q.
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Date
2011-05
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Abstract
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.
Description
Keywords
7q monosomy, 14 q trisomy, Mental retardation, Translocation
Citation
Ponnala Rajitha, Dalal Ashwin. Partial Monosomy 7q. Indian Pediatrics. 2011 May; 48(5): 399-401.