Partners with reciprocal translocations: genetic counseling for the 'double translocation'.
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.
Cook
L
L
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.
Hartsfield
J K
JK
Vance
G H
GH
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005220:Fathers; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D009035:Mothers; D010375:Pedigree; D018454:Spouses; D014178:Translocation, Genetic