Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant

P. J. Gillar; C. I. Kaye; S. G. Ryan; C. M. Moore

doi:10.1002/ajmg.1320440204

Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant

P. J. Gillar, C. I. Kaye, S. G. Ryan, C. M. Moore

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

4 Scopus citations

Abstract

We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.

Original language	English (US)
Pages (from-to)	138-141
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	44
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.1320440204
State	Published - 1992
Externally published	Yes

Keywords

7
chromosome
human
interstitial deletion
mental retardation

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1002/ajmg.1320440204

Cite this

@article{9fcf10c1333645aa8b41f9edfb5bf13e,

title = "Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant",

abstract = "We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.",

keywords = "7, chromosome, human, interstitial deletion, mental retardation",

author = "Gillar, {P. J.} and Kaye, {C. I.} and Ryan, {S. G.} and Moore, {C. M.}",

year = "1992",

doi = "10.1002/ajmg.1320440204",

language = "English (US)",

volume = "44",

pages = "138--141",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

number = "2",

}

TY - JOUR

T1 - Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant

AU - Gillar, P. J.

AU - Kaye, C. I.

AU - Ryan, S. G.

AU - Moore, C. M.

PY - 1992

Y1 - 1992

N2 - We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.

AB - We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.

KW - 7

KW - chromosome

KW - human

KW - interstitial deletion

KW - mental retardation

UR - http://www.scopus.com/inward/record.url?scp=0026641459&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026641459&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320440204

DO - 10.1002/ajmg.1320440204

M3 - Article

C2 - 1456281

AN - SCOPUS:0026641459

SN - 0148-7299

VL - 44

SP - 138

EP - 141

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 2

ER -

Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this