Congenital heart defects in siblings with partial aneuploidy of chromosome 2p

Carolyn A. Morris, Thomas M. Sutton, Timothy Mark Olson

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Cytogenetic anomalies are found in 13% of children with congenital heart disease, providing positional information that may aid in identifying genes governing cardiac development. We report two children born to a clinically normal female with a balanced chromosomal rearrangement, resulting from insertion of 2p24.2-p25.1 into chromosome 1. Each of her offspring had complex congenital heart disease, including left ventricular hypoplasia, and inherited a different copy number of the 2p segment. These findings suggest that proper dosage of a gene or genes in this region is important in normal cardiac development.

Original languageEnglish (US)
Pages (from-to)33-35
Number of pages3
JournalCardiovascular Pathology
Volume15
Issue number1
DOIs
StatePublished - Jan 2006

Fingerprint

Congenital Heart Defects
Aneuploidy
Siblings
Heart Diseases
Chromosomes
Gene Dosage
Chromosomes, Human, Pair 1
Cytogenetics
Genes

Keywords

  • Cardiac development
  • Congenital heart disease
  • Cytogenetics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pathology and Forensic Medicine

Cite this

Congenital heart defects in siblings with partial aneuploidy of chromosome 2p. / Morris, Carolyn A.; Sutton, Thomas M.; Olson, Timothy Mark.

In: Cardiovascular Pathology, Vol. 15, No. 1, 01.2006, p. 33-35.

Research output: Contribution to journalArticle

Morris, Carolyn A. ; Sutton, Thomas M. ; Olson, Timothy Mark. / Congenital heart defects in siblings with partial aneuploidy of chromosome 2p. In: Cardiovascular Pathology. 2006 ; Vol. 15, No. 1. pp. 33-35.
@article{87784389133c4ef38fc2a74bc5b0ec7d,
title = "Congenital heart defects in siblings with partial aneuploidy of chromosome 2p",
abstract = "Cytogenetic anomalies are found in 13{\%} of children with congenital heart disease, providing positional information that may aid in identifying genes governing cardiac development. We report two children born to a clinically normal female with a balanced chromosomal rearrangement, resulting from insertion of 2p24.2-p25.1 into chromosome 1. Each of her offspring had complex congenital heart disease, including left ventricular hypoplasia, and inherited a different copy number of the 2p segment. These findings suggest that proper dosage of a gene or genes in this region is important in normal cardiac development.",
keywords = "Cardiac development, Congenital heart disease, Cytogenetics",
author = "Morris, {Carolyn A.} and Sutton, {Thomas M.} and Olson, {Timothy Mark}",
year = "2006",
month = "1",
doi = "10.1016/j.carpath.2005.08.004",
language = "English (US)",
volume = "15",
pages = "33--35",
journal = "Cardiovascular Pathology",
issn = "1054-8807",
publisher = "Elsevier Inc.",
number = "1",

}

TY - JOUR

T1 - Congenital heart defects in siblings with partial aneuploidy of chromosome 2p

AU - Morris, Carolyn A.

AU - Sutton, Thomas M.

AU - Olson, Timothy Mark

PY - 2006/1

Y1 - 2006/1

N2 - Cytogenetic anomalies are found in 13% of children with congenital heart disease, providing positional information that may aid in identifying genes governing cardiac development. We report two children born to a clinically normal female with a balanced chromosomal rearrangement, resulting from insertion of 2p24.2-p25.1 into chromosome 1. Each of her offspring had complex congenital heart disease, including left ventricular hypoplasia, and inherited a different copy number of the 2p segment. These findings suggest that proper dosage of a gene or genes in this region is important in normal cardiac development.

AB - Cytogenetic anomalies are found in 13% of children with congenital heart disease, providing positional information that may aid in identifying genes governing cardiac development. We report two children born to a clinically normal female with a balanced chromosomal rearrangement, resulting from insertion of 2p24.2-p25.1 into chromosome 1. Each of her offspring had complex congenital heart disease, including left ventricular hypoplasia, and inherited a different copy number of the 2p segment. These findings suggest that proper dosage of a gene or genes in this region is important in normal cardiac development.

KW - Cardiac development

KW - Congenital heart disease

KW - Cytogenetics

UR - http://www.scopus.com/inward/record.url?scp=30644464728&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=30644464728&partnerID=8YFLogxK

U2 - 10.1016/j.carpath.2005.08.004

DO - 10.1016/j.carpath.2005.08.004

M3 - Article

VL - 15

SP - 33

EP - 35

JO - Cardiovascular Pathology

JF - Cardiovascular Pathology

SN - 1054-8807

IS - 1

ER -