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A 6p trisomy detected in a family with a "giant satellite".
Humangenetik ; 30(1): 63-7, 1975 Oct 20.
Article en En | MEDLINE | ID: mdl-1184005
A very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Trisomía / Aberraciones Cromosómicas / Cromosomas Humanos 13-15 / Cromosomas Humanos 6-12 y X Límite: Female / Humans / Infant / Male Idioma: En Revista: Humangenetik Año: 1975 Tipo del documento: Article Pais de publicación: Alemania
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Trisomía / Aberraciones Cromosómicas / Cromosomas Humanos 13-15 / Cromosomas Humanos 6-12 y X Límite: Female / Humans / Infant / Male Idioma: En Revista: Humangenetik Año: 1975 Tipo del documento: Article Pais de publicación: Alemania