Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13)

A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.

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Bibliographic Details
Published in:Human genetics 1979-01, Vol.49 (3), p.361-364
Main Authors: Fryns, J P, Parloir, C, Van den Berghe, H
Format: Article
Language:English
Subjects:
Adolescent
Chromosomes, Human, 16-18
Chromosomes, Human, 21-22 and Y
Humans
Intellectual Disability - genetics
Karyotyping
Male
Translocation, Genetic
Trisomy
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Description
Summary:A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00569357