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1. [Monosomy 4 p-- (Wolf-Hirschorn's syndrome)].

Author

Battin J, Channarond J, Génaudeau J, and Ruffié M

Subjects
Abnormalities, Multiple diagnosis, Chromosome Disorders, Female, Humans, Infant, Karyotyping, Chromosome Aberrations diagnosis, Chromosomes, Human, 4-5
Abstract

The phenotype of the 4 p-- syndrome may be clinically distinguished from the one of the 5 p-- syndrome by the presence of fusion abnormalities of the median line. In the case reported, these abnormalities concerned a cleft palate, an iris coloboma and a fistula of the sacrum, in addition to an important hypotrophy and a severe mental retardation associated with epilepsy.

Published
1977

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