Molecular cytogenetic identification of four X chromosome duplications

Aiwu Zhang, David Weaver, Catherine G. Palmer

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late- replicating pattern, abnormal clinical findings were manifested in 3 female patients.

Original languageEnglish
Pages (from-to)29-38
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume68
Issue number1
DOIs
StatePublished - Jan 10 1997

Fingerprint

Chromosome Duplication
X Chromosome
Cytogenetics
Chromosome Painting
Cytogenetic Analysis
DNA Probes
Chromosome Aberrations

Keywords

  • duplications
  • X chromosome
  • X-FISH

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Molecular cytogenetic identification of four X chromosome duplications. / Zhang, Aiwu; Weaver, David; Palmer, Catherine G.

In: American Journal of Medical Genetics, Vol. 68, No. 1, 10.01.1997, p. 29-38.

Research output: Contribution to journalArticle

@article{da080303c9bb4ab394a36fc80753a834,
title = "Molecular cytogenetic identification of four X chromosome duplications",
abstract = "Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late- replicating pattern, abnormal clinical findings were manifested in 3 female patients.",
keywords = "duplications, X chromosome, X-FISH",
author = "Aiwu Zhang and David Weaver and Palmer, {Catherine G.}",
year = "1997",
month = "1",
day = "10",
doi = "10.1002/(SICI)1096-8628(19970110)68:1<29::AID-AJMG6>3.0.CO;2-T",
language = "English",
volume = "68",
pages = "29--38",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Molecular cytogenetic identification of four X chromosome duplications

AU - Zhang, Aiwu

AU - Weaver, David

AU - Palmer, Catherine G.

PY - 1997/1/10

Y1 - 1997/1/10

N2 - Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late- replicating pattern, abnormal clinical findings were manifested in 3 female patients.

AB - Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late- replicating pattern, abnormal clinical findings were manifested in 3 female patients.

KW - duplications

KW - X chromosome

KW - X-FISH

UR - http://www.scopus.com/inward/record.url?scp=0031012016&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031012016&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19970110)68:1<29::AID-AJMG6>3.0.CO;2-T

DO - 10.1002/(SICI)1096-8628(19970110)68:1<29::AID-AJMG6>3.0.CO;2-T

M3 - Article

C2 - 8986272

AN - SCOPUS:0031012016

VL - 68

SP - 29

EP - 38

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 1

ER -