Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21;p13) or (q21;pter)

J. Stamberg, J. Shapiro, D. Valle, F. P. Kuhajda, G. Thomas, L. Wissow

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with this chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21;p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.

Original languageEnglish (US)
Pages (from-to)122-125
Number of pages4
JournalUnknown Journal
Issue number2
StatePublished - 1981

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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