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Partners with reciprocal translocations: genetic counseling for the 'double translocation'
L Cook1, J K Hartsfield, G H Vance
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.
Clinical Genetics
|July 11, 1998
Abstract:
SV at age 2 years presented with multiple congenital anomalies including an absent left kidney, anal stenosis, vertebral abnormalities, partial sacral agenesis, microcephaly, dysmorphic facial features, growth deficiency, and developmental delay. She was found to have a complex chromosomal rearrangement derived from balanced translocations in each parent.