Ventricular noncompaction and distal chromosome 5q deletion

Richard M. Pauli; Susan Scheib-Wixted; Linda Cripe; Seigo Izumo; Gurbax S. Sekhon

doi:10.1002/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2-S

Ventricular noncompaction and distal chromosome 5q deletion

Richard M. Pauli
, Susan Scheib-Wixted
, Linda Cripe
, Seigo Izumo
, Gurbax S. Sekhon

Pediatrics

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

101 Scopus citations

Abstract

We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.

Original language	English
Pages (from-to)	419-423
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	85
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2-S
State	Published - 1999

Keywords

CSX
Cardiac defects
Cardiomyopathy
Chromosome deletion
Cytogenetic abnormality
Fluorescent in situ hybridization

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10.1002/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2-S

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title = "Ventricular noncompaction and distal chromosome 5q deletion",

abstract = "We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.",

keywords = "CSX, Cardiac defects, Cardiomyopathy, Chromosome deletion, Cytogenetic abnormality, Fluorescent in situ hybridization",

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T1 - Ventricular noncompaction and distal chromosome 5q deletion

AU - Pauli, Richard M.

AU - Scheib-Wixted, Susan

AU - Cripe, Linda

AU - Izumo, Seigo

AU - Sekhon, Gurbax S.

PY - 1999

Y1 - 1999

N2 - We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.

AB - We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.

KW - CSX

KW - Cardiac defects

KW - Cardiomyopathy

KW - Chromosome deletion

KW - Cytogenetic abnormality

KW - Fluorescent in situ hybridization

UR - https://www.scopus.com/pages/publications/0032771725

U2 - 10.1002/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2-S

DO - 10.1002/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2-S

M3 - Article

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AN - SCOPUS:0032771725

SN - 0148-7299

VL - 85

SP - 419

EP - 423

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

Ventricular noncompaction and distal chromosome 5q deletion

Abstract

Keywords

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