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.F. Hsu, L. C. Goldsmith, L. Strauss, K. Hirschhorn

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

A newborn infant with clinical and pathological findings typical of 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.

Original languageEnglish
Pages (from-to)114-119
Number of pages6
JournalUnknown Journal
Volume14
Issue number2
DOIs
StatePublished - 1977

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