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Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32). Journal of medical genetics. [J Med Genet] Journal article

 
TitleAnother patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).
Author(s)Kroes HY, Tuerlings JH, Hordijk R, Folkers NR, ten Kate LP 
InstitutionDepartment of Medical Genetics, University of Groningen, The Netherlands.
SourceJ Med Genet 1994 Feb; 31(2):156-8.
MeSHAbnormalities, Multiple
Adult
Chromosome Deletion
Chromosomes, Human, Pair 9
Female
Growth Disorders
Head
Humans
Infant
Karyotyping
Male
Mental Retardation
Microcephaly
AbstractWe 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.
Languageeng
Pub Type(s)Journal Article
Review
PubMed ID8182726
  
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