Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

H Y Kroes; J H Tuerlings; R Hordijk; N R Folkers; L P ten Kate

doi:10.1136/jmg.31.2.156

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

J Med Genet. 1994 Feb;31(2):156-8. doi: 10.1136/jmg.31.2.156.

Authors

H Y Kroes¹, J H Tuerlings, R Hordijk, N R Folkers, L P ten Kate

Affiliation

¹ Department of Medical Genetics, University of Groningen, The Netherlands.

Abstract

We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.

Publication types

Review

MeSH terms

Abnormalities, Multiple*
Adult
Chromosome Deletion*
Chromosomes, Human, Pair 9*
Female
Growth Disorders / genetics*
Head / abnormalities
Humans
Infant
Intellectual Disability / genetics*
Karyotyping
Male
Microcephaly / genetics