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Partners with reciprocal translocations: genetic counseling for the ‘double translocation’
Author(s) -
Cook Lola,
Hartsfield James K,
Vance Gail H
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02754.x
Subject(s) - chromosomal translocation , microcephaly , agenesis , genetic counseling , chromosomal rearrangement , genetics , renal agenesis , expressivity , biology , medicine , chromosome , kidney , karyotype , gene
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.