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Tétrasomie partielle du chromosome 9, à l'état de mosaïque, chez un enfant porteur de malformations multiples

Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations

Summary

The case of a child showing multiple malformations is reported. Chromosome studies by Q, G, C and Giemsa 11 banding methods revealed that lymphocytes of the propositus had a 47XY,t(9p,h+,9p) karyotype though fibroblasts from a skin biopsy were normal (46XY).

Résumé

Le cas d'un enfant porteur de malformations multiples est décrit. L'étude des chromosomes par les techniques du Q-, G-, C- et Giemsa-11 banding a révélé que les lymphocytes du proposant présentaient une formule caryologique 47XY,t(9p,h+,9p) alors que les fibroblastes provenant d'une biopsie de peau étaient normaux (46XY).

Zusammenfassung

Es wird über ein Kind, das mannigfaltige Mißbildungen zeigt, berichtet. Die Chromosomenuntersuchung mit Hilfe der Q-, G-, C- und Giemsa-11 Banding-Methoden hat an Lymphocyten den Karyotyp 47,XY,t(9p,h+,9p) ergeben, während Fibroblasten von einer Hautbiopsie einen normalen Karyotyp (46,XY) haben.

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Travail réalisé avec l'appui du Fonds de la Recherche Scientifique Médicale (Belgique).

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Ghymers, D., Hermann, B., Distèche, C. et al. Tétrasomie partielle du chromosome 9, à l'état de mosaïque, chez un enfant porteur de malformations multiples. Humangenetik 20, 273–282 (1973). https://doi.org/10.1007/BF00385740

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  • DOI: https://doi.org/10.1007/BF00385740