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 | | Title | Another 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 | | Institution | Department of Medical Genetics, University of Groningen, The Netherlands. | | Source | J Med Genet 1994 Feb; 31(2):156-8. | | MeSH | Abnormalities, Multiple Adult Chromosome Deletion Chromosomes, Human, Pair 9 Female Growth Disorders Head Humans Infant Karyotyping Male Mental Retardation Microcephaly
| | 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. | | Language | eng | | Pub Type(s) | Journal Article Review
| | PubMed ID | 8182726 |
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