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