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

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).

• Authors: G Bourrouillou, P Colombies, D Gallegos, C Manelfe, P Rochiccioli
• Journal: Annales de genetique (Ann Genet) Vol. 24 Issue 1 Pg. 61-4 ( 1981) ISSN: 0003-3995 [Print] Netherlands
• Vernacular Title: Monosomie partielle du bras court d'un chromosome 10: a propos d'une observation avec étude tomodensitométrique.
• PMID: 6971623 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (diagnostic imaging)
• Chromosome Aberrations (diagnostic imaging)
• Chromosome Deletion
• Chromosome Disorders
• Chromosomes, Human, 6-12 and X
• Humans
• Infant, Newborn
• Male
• Tomography, X-Ray Computed