Balanced rearrangement of chromosomes 2, 5 and 13 in a family with duplication 5q and fetal loss

M. I. Evans; B. J. White; S. G. Kent; M. A. Levine; S. W. Levin; J. W. Larsen

doi:10.1002/ajmg.1320190419

Balanced rearrangement of chromosomes 2, 5 and 13 in a family with duplication 5q and fetal loss

M. I. Evans, B. J. White, S. G. Kent, M. A. Levine, S. W. Levin, J. W. Larsen

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

11 Scopus citations

Abstract

We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangement involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.

Original language	English (US)
Pages (from-to)	783-790
Number of pages	8
Journal	American Journal of Medical Genetics
Volume	19
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320190419
State	Published - 1984
Externally published	Yes

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1002/ajmg.1320190419

Cite this

@article{71e8bbb866374a78a0cf46ef7cb27537,

title = "Balanced rearrangement of chromosomes 2, 5 and 13 in a family with duplication 5q and fetal loss",

abstract = "We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangement involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.",

author = "Evans, {M. I.} and White, {B. J.} and Kent, {S. G.} and Levine, {M. A.} and Levin, {S. W.} and Larsen, {J. W.}",

year = "1984",

doi = "10.1002/ajmg.1320190419",

language = "English (US)",

volume = "19",

pages = "783--790",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Balanced rearrangement of chromosomes 2, 5 and 13 in a family with duplication 5q and fetal loss

AU - Evans, M. I.

AU - White, B. J.

AU - Kent, S. G.

AU - Levine, M. A.

AU - Levin, S. W.

AU - Larsen, J. W.

PY - 1984

Y1 - 1984

N2 - We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangement involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.

AB - We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangement involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.

UR - http://www.scopus.com/inward/record.url?scp=0021680510&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021680510&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320190419

DO - 10.1002/ajmg.1320190419

M3 - Article

C2 - 6517101

AN - SCOPUS:0021680510

SN - 1552-4825

VL - 19

SP - 783

EP - 790

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

ER -

Balanced rearrangement of chromosomes 2, 5 and 13 in a family with duplication 5q and fetal loss

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this