Multiple recurrence of trisomy 21 Down syndrome

K G Nielsen; H Poulsen; M Mikkelsen; E Steuber

doi:10.1007/BF00291249

Multiple recurrence of trisomy 21 Down syndrome

K G Nielsen, H Poulsen, M Mikkelsen, E Steuber

Afdeling for Genetik

32 Citationer (Scopus)

Abstract

A young family with four chromosomally documented cases of trisomy 21, at least two, further cases of Down syndrome diagnosed only clinically, and no healthy children among their offspring is reported. No sign of mosaicism was found in studies of lymphocytes and skin fibroblasts from the parents. In a biopsy from the mother's ovary a trisomic cell line was found, thus giving some, but not a complete explanation for this extraordinary family. Additional explanations are suggested.

Originalsprog	Engelsk
Tidsskrift	Human Genetics
Vol/bind	78
Udgave nummer	1
Sider (fra-til)	103-5
Antal sider	3
ISSN	0340-6717
DOI	https://doi.org/10.1007/BF00291249
Status	Udgivet - jan. 1988

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10.1007/BF00291249

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title = "Multiple recurrence of trisomy 21 Down syndrome",

abstract = "A young family with four chromosomally documented cases of trisomy 21, at least two, further cases of Down syndrome diagnosed only clinically, and no healthy children among their offspring is reported. No sign of mosaicism was found in studies of lymphocytes and skin fibroblasts from the parents. In a biopsy from the mother's ovary a trisomic cell line was found, thus giving some, but not a complete explanation for this extraordinary family. Additional explanations are suggested.",

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author = "Nielsen, {K G} and H Poulsen and M Mikkelsen and E Steuber",

year = "1988",

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T1 - Multiple recurrence of trisomy 21 Down syndrome

AU - Nielsen, K G

AU - Poulsen, H

AU - Mikkelsen, M

AU - Steuber, E

PY - 1988/1

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N2 - A young family with four chromosomally documented cases of trisomy 21, at least two, further cases of Down syndrome diagnosed only clinically, and no healthy children among their offspring is reported. No sign of mosaicism was found in studies of lymphocytes and skin fibroblasts from the parents. In a biopsy from the mother's ovary a trisomic cell line was found, thus giving some, but not a complete explanation for this extraordinary family. Additional explanations are suggested.

AB - A young family with four chromosomally documented cases of trisomy 21, at least two, further cases of Down syndrome diagnosed only clinically, and no healthy children among their offspring is reported. No sign of mosaicism was found in studies of lymphocytes and skin fibroblasts from the parents. In a biopsy from the mother's ovary a trisomic cell line was found, thus giving some, but not a complete explanation for this extraordinary family. Additional explanations are suggested.

KW - Adult

KW - Down Syndrome/genetics

KW - Female

KW - Humans

KW - Infant, Newborn

KW - Karyotyping

KW - Male

KW - Mosaicism

KW - Ovary/ultrastructure

KW - Pedigree

KW - Recurrence

KW - Risk Factors

U2 - 10.1007/BF00291249

DO - 10.1007/BF00291249

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SN - 0340-6717

VL - 78

SP - 103

EP - 105

JO - Human Genetics

JF - Human Genetics

IS - 1

ER -

Multiple recurrence of trisomy 21 Down syndrome

Abstract

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