Trisomy 22 confirmed by fluorescent in situ hybridization

R. F. Stratton; B. R. DuPont; V. L. Mattern; R. S. Young; J. W. McCourt; C. M. Moore

doi:10.1002/ajmg.1320460119

Trisomy 22 confirmed by fluorescent in situ hybridization

R. F. Stratton, B. R. DuPont, V. L. Mattern, R. S. Young, J. W. McCourt, C. M. Moore

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

11 Scopus citations

Abstract

We report on a newborn girl with multiple congenital anomalies, whose G- banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.

Original language	English (US)
Pages (from-to)	109-112
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	46
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320460119
State	Published - 1993
Externally published	Yes

Keywords

chromosome painting
cleft lip/palate
tetralogy of Fallot

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320460119

Cite this

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title = "Trisomy 22 confirmed by fluorescent in situ hybridization",

abstract = "We report on a newborn girl with multiple congenital anomalies, whose G- banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.",

keywords = "chromosome painting, cleft lip/palate, tetralogy of Fallot",

author = "Stratton, {R. F.} and DuPont, {B. R.} and Mattern, {V. L.} and Young, {R. S.} and McCourt, {J. W.} and Moore, {C. M.}",

year = "1993",

doi = "10.1002/ajmg.1320460119",

language = "English (US)",

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T1 - Trisomy 22 confirmed by fluorescent in situ hybridization

AU - Stratton, R. F.

AU - DuPont, B. R.

AU - Mattern, V. L.

AU - Young, R. S.

AU - McCourt, J. W.

AU - Moore, C. M.

PY - 1993

Y1 - 1993

N2 - We report on a newborn girl with multiple congenital anomalies, whose G- banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.

AB - We report on a newborn girl with multiple congenital anomalies, whose G- banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.

KW - chromosome painting

KW - cleft lip/palate

KW - tetralogy of Fallot

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DO - 10.1002/ajmg.1320460119

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AN - SCOPUS:0027450125

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Trisomy 22 confirmed by fluorescent in situ hybridization

Abstract

Keywords

ASJC Scopus subject areas

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