Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature

A S Plomp; C T Schrander-Stumpel; J J Engelen; J M Sijstermans; W H Loneus; J P Fryns

Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature

Genet Couns. 1995;6(1):55-60.

Authors

A S Plomp¹, C T Schrander-Stumpel, J J Engelen, J M Sijstermans, W H Loneus, J P Fryns

Affiliation

¹ Division of Molecular Celbiology and Genetics, Academic Hospital, Maastricht, The Netherlands.

PMID: 7794563

Abstract

We report a mentally retarded girl with minimal dysmorphic signs. Cytogenetic examination showed an interstitial deletion of chromosome 8: 46, XX, del(8)(p21.2p22). This deletion has not been reported before. We compare the patient with the literature data.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 8*
Female
Hair / abnormalities
Humans
Intellectual Disability