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

doi:10.1111/j.1399-0004.1981.tb00681.x

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

Johns Hopkins Hospital

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	122-125
Number of pages	4
Journal	Unknown Journal
Volume	19
Issue number	2
DOIs	https://doi.org/10.1111/j.1399-0004.1981.tb00681.x
State	Published - 1981

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1981.tb00681.x

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AU - Valle, D.

AU - Kuhajda, F. P.

AU - Thomas, G.

AU - Wissow, L.

PY - 1981

Y1 - 1981

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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