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Case Reports
. 1977 Apr;14(2):114-9.
doi: 10.1136/jmg.14.2.114.

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

H J Kim, L Y Hsu, L C Goldsmith, L Strauss, K Hirschhorn
Case Reports

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

H J Kim et al. J Med Genet. 1977 Apr.

Abstract

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.

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