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Terminal deletion of (1)(q42) and its phenotypical manifestations

✍ Scribed by Milly Andrle; A. Erlach; W. R. Mayr; A. Rett

Publisher: Springer
Year: 1978
Tongue: English
Weight: 294 KB
Volume: 41
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278878

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✦ Synopsis

A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial monosomy (1)(q42 leads to qter) is described. This case is compared with other cases with a partial monosomy or ring-1 chromosomes.

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