Velo-cardio-facial syndrome

Wendy R. Kates; Kevin Antshel; Wanda Fremont; Robert J. Shprintzen; Nancy Roizen

Velo-cardio-facial syndrome

Wendy R. Kates, Kevin Antshel, Wanda Fremont, Robert J. Shprintzen, Nancy Roizen

Research output: Chapter in Book/Entry/Poem › Chapter

Abstract

Velo-cardio-facial syndrome (VCFS) is a relatively common genetic disorder that affects about 1 in 2000 individuals (1). Caused by a microdeletion on chromosome 22q.11 (2,3), the syndrome is associated with multiple congenital anomalies and learning disabilities (4-8). The phenotypic spectrum of VCFS may be the most pleiotropic of any genetic syndrome. Over 180 clinical features have been reported in individuals with VCFS (1,9) with none being obligatory findings. Individuals with VCFS may have as few as four or five anomalies or over 50 depending on the severity of expression of the syndrome. Arguably, the most frequently described features of VCFS are behavioral, cognitive, and developmental problems (9).

Original language	English (US)
Title of host publication	Genetics of Developmental Disabilities
Publisher	CRC Press
Pages	383-417
Number of pages	35
ISBN (Electronic)	9780849348020
ISBN (Print)	0824758137, 9780824758134
State	Published - Jan 1 2005
Externally published	Yes

ASJC Scopus subject areas

General Medicine
General Biochemistry, Genetics and Molecular Biology

Cite this

@inbook{17eaeb97b6fb4ac7ab083006c091bb61,

title = "Velo-cardio-facial syndrome",

abstract = "Velo-cardio-facial syndrome (VCFS) is a relatively common genetic disorder that affects about 1 in 2000 individuals (1). Caused by a microdeletion on chromosome 22q.11 (2,3), the syndrome is associated with multiple congenital anomalies and learning disabilities (4-8). The phenotypic spectrum of VCFS may be the most pleiotropic of any genetic syndrome. Over 180 clinical features have been reported in individuals with VCFS (1,9) with none being obligatory findings. Individuals with VCFS may have as few as four or five anomalies or over 50 depending on the severity of expression of the syndrome. Arguably, the most frequently described features of VCFS are behavioral, cognitive, and developmental problems (9).",

author = "Kates, {Wendy R.} and Kevin Antshel and Wanda Fremont and Shprintzen, {Robert J.} and Nancy Roizen",

note = "Publisher Copyright: {\textcopyright} 2005 by Taylor & Francis Group, LLC.",

year = "2005",

month = jan,

day = "1",

language = "English (US)",

isbn = "0824758137",

pages = "383--417",

booktitle = "Genetics of Developmental Disabilities",

publisher = "CRC Press",

}

TY - CHAP

T1 - Velo-cardio-facial syndrome

AU - Kates, Wendy R.

AU - Antshel, Kevin

AU - Fremont, Wanda

AU - Shprintzen, Robert J.

AU - Roizen, Nancy

PY - 2005/1/1

Y1 - 2005/1/1

N2 - Velo-cardio-facial syndrome (VCFS) is a relatively common genetic disorder that affects about 1 in 2000 individuals (1). Caused by a microdeletion on chromosome 22q.11 (2,3), the syndrome is associated with multiple congenital anomalies and learning disabilities (4-8). The phenotypic spectrum of VCFS may be the most pleiotropic of any genetic syndrome. Over 180 clinical features have been reported in individuals with VCFS (1,9) with none being obligatory findings. Individuals with VCFS may have as few as four or five anomalies or over 50 depending on the severity of expression of the syndrome. Arguably, the most frequently described features of VCFS are behavioral, cognitive, and developmental problems (9).

AB - Velo-cardio-facial syndrome (VCFS) is a relatively common genetic disorder that affects about 1 in 2000 individuals (1). Caused by a microdeletion on chromosome 22q.11 (2,3), the syndrome is associated with multiple congenital anomalies and learning disabilities (4-8). The phenotypic spectrum of VCFS may be the most pleiotropic of any genetic syndrome. Over 180 clinical features have been reported in individuals with VCFS (1,9) with none being obligatory findings. Individuals with VCFS may have as few as four or five anomalies or over 50 depending on the severity of expression of the syndrome. Arguably, the most frequently described features of VCFS are behavioral, cognitive, and developmental problems (9).

UR - http://www.scopus.com/inward/record.url?scp=85056925165&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85056925165&partnerID=8YFLogxK

M3 - Chapter

AN - SCOPUS:85056925165

SN - 0824758137

SN - 9780824758134

SP - 383

EP - 417

BT - Genetics of Developmental Disabilities

PB - CRC Press

ER -

Velo-cardio-facial syndrome

Abstract

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this