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[Partial monosomy 10p in a case investigated with tomodensitometry (author's transl)].

作者信息

Bourrouillou G, Colombies P, Gallegos D, Manelfe C, Rochiccioli P

出版信息

Ann Genet. 1981;24(1):61-4.

PMID:6971623
Abstract

A new case of monosomy 10p without associated chromosomal abnormality is reported. This observation, compared with three others from the literature, shows the following common symptoms: microcephaly, antimongoloid slant of the palpebral fissures, low-set ears, prominent anthelix, congenital heart disease, abnormalities of the limbs. Cranial tomography demonstrates a midline developmental anomaly of the brain (cavum vergae associated with cavum septi pellucidi).

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