Partial monosomy 8p with minimal dysmorphic signs.

Journal of medical genetics ·Vol. 27 ·No. 5 ·1990-05-00 ·Pages 327-9

Blennow E, Bröndum-Nielsen K

Abstract

A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.

MeSH Terms

Adolescent Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 8 Facial Expression Female Humans Karyotyping

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Blennow E

Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

Bröndum-Nielsen K

References (11)

11 references, click to expand

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New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.
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A case of deletion of short arm of chromosome 8.
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[Partial deletion of the short arm of chromosome 8].
Ann Genet. 1977 Mar;20(1):70-2 PMID: 302680
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Small structural changes of chromosome 8. Two cases with evidence for deletion.
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Partial 8p- syndrome.
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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.27.5.327

Published

1990-05-00

Pages

327-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1017085

Subset

External Links

PubMed source DOI: 10.1136/jmg.27.5.327 PMC Full Text View journal details

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