[Partial monosomy 10p in a case investigated with tomodensitometry (author's transl)].
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).
D001921:Brain / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014057:Tomography, X-Ray Computed
Monosomie partielle du bras court d'un chromosome 10: a propos d'une observation avec étude tomodensitométrique.