RT Journal Article
SR Electronic
T1 Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 114
OP 119
DO 10.1136/jmg.14.2.114
VO 14
IS 2
A1 H J Kim
A1 L Y Hsu
A1 L C Goldsmith
A1 L Strauss
A1 K Hirschhorn
YR 1977
UL http://jmg.bmj.com/content/14/2/114.abstract
AB A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.