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1. [De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation].

Author

Gagnon JA, Richer CL, Lemieux N, and Gauthier-Chouinard M

Subjects
Abnormalities, Multiple genetics, Humans, Infant, Karyotyping, Male, Syndrome, Chromosomes, Human, 1-3 ultrastructure, Chromosomes, Human, 6-12 and X ultrastructure, Mosaicism, Translocation, Genetic, Trisomy
Abstract

A child with trisomy 1q24----qter is described. This syndrome is compared to other 1q partial trisomies. An association is proposed between these trisomic segments and the following phenotypic signs: microphtalmia, trigonocephaly, hypertrichosis, antimongoloid eye slants, anomalies of the biliary tract, and malformations of the central nervous system.

Published
1984

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