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Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

Dallapiccola, B ; Bollea, G ; Mazzilli, C ; Gandini, E

Human genetics, 1976-01, Vol.33 (1), p.73-76 [Periódico revisado por pares]

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Título:
Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome
Autor: Dallapiccola, B ; Bollea, G ; Mazzilli, C ; Gandini, E
Assuntos: Child ; Chromosome Aberrations ; Chromosomes, Human, 21-22 and Y ; Chromosomes, Human, 6-12 and X ; Humans ; Male ; Pedigree ; Phenotype ; Translocation, Genetic ; Trisomy
É parte de: Human genetics, 1976-01, Vol.33 (1), p.73-76
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
Descrição: 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.
Editor: Germany
Idioma: Inglês

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