Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

L. H. Tseng; S. M. Chuang; T. Y. Lee; Tsang Ming Ko

doi:10.1007/BF02335088

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

L. H. Tseng, S. M. Chuang, T. Y. Lee, Tsang Ming Ko

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24 Scopus citations

Abstract

A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p]

Original language	English (US)
Pages (from-to)	213-216
Number of pages	4
Journal	Archives of Gynecology and Obstetrics
Volume	255
Issue number	4
DOIs	https://doi.org/10.1007/BF02335088
State	Published - Dec 1994
Externally published	Yes

Keywords

DNA polymorphism analysis
Mosaicism
Trisomy 21

ASJC Scopus subject areas

Obstetrics and Gynecology

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10.1007/BF02335088

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title = "Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism",

abstract = "A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p]",

keywords = "DNA polymorphism analysis, Mosaicism, Trisomy 21",

author = "Tseng, {L. H.} and Chuang, {S. M.} and Lee, {T. Y.} and Ko, {Tsang Ming}",

year = "1994",

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doi = "10.1007/BF02335088",

language = "English (US)",

volume = "255",

pages = "213--216",

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T1 - Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

AU - Tseng, L. H.

AU - Chuang, S. M.

AU - Lee, T. Y.

AU - Ko, Tsang Ming

PY - 1994/12

Y1 - 1994/12

N2 - A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p]

AB - A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p]

KW - DNA polymorphism analysis

KW - Mosaicism

KW - Trisomy 21

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ER -

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

Abstract

Keywords

ASJC Scopus subject areas

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