Interstitial deletion 8p21.3 → p23.1 in a 6‐year‐old girl

1 March 1992

journal article
case report
Published by Wiley in American Journal of Medical Genetics

Vol. 42 (5) , 678-680
https://doi.org/10.1002/ajmg.1320420510

Abstract

We present a 6‐year‐old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter → p23.1::p21.3 → qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were normal.

Keywords

This publication has 11 references indexed in Scilit:

Partial monosomy 8p with minimal dysmorphic signs.
Journal of Medical Genetics, 1990
Deficiency of distal 8p —: report of two cases and review of the literature
Clinical Genetics, 1990
The coagulation factor VII regulator is located on 8p23.1
Human Genetics, 1988
Monosomy 8p: an easily overlooked syndrome.
Journal of Medical Genetics, 1986
Deficiency of chromosome 8p21.1→8pter: Case report and review of the literature
American Journal of Medical Genetics, 1985
The 8p- syndrome
Human Genetics, 1979
Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12
Cytogenetic and Genome Research, 1978
Small structural changes of chromosome 8
Human Genetics, 1977
A new chromosome deletion syndrome. Report of a patient with a 46, XY,8p‐ chromosome constitution
Clinical Genetics, 1976
rDNA and acrocentric chromosomes in man
Human Genetics, 1976