Trisomy 20p: case report and genetic review.

Autor: Lurie IW, Rumyantseva NV, Zaletajev DV, Gurevich DB, Korotkova IA
Jazyk: angličtina
Zdroj: Journal de genetique humaine [J Genet Hum] 1985 Jan; Vol. 33 (1), pp. 67-75.
Abstrakt: Partial trisomy for the distal part of the short arm of chromosome 20 reported in a girl aged 11/2 years with typical craniofacial dysmorphies and psychomotor retardation. The trisomy resulted from a paternal translocation t(14;20) (q32.3;p11.1). The review of 25 cases of partial trisomy 20p showed that most cases (22 : 25) were due to parental translocations. Predominant involvement of small chromosomes in translocations with chromosome 20 was also detected.
Databáze: MEDLINE