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Hum Genet ; 33(1): 73-6, 1976 Jul 07.
Article in English | MEDLINE | ID: mdl-939560

ABSTRACT

A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote for a complex translocation involving chromosomes 9, 21 and 22. The phenotypically normal sister of the proposition is also carrier of the same complex translocation.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, 6-12 and X , Translocation, Genetic , Trisomy , Child , Humans , Male , Pedigree , Phenotype
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