RING CHROMOSOME-15 SYNDROME IN AN ADULT FEMALE

Citation
T. Matsuishi et al., RING CHROMOSOME-15 SYNDROME IN AN ADULT FEMALE, JIDR. Journal of intellectual disability research, 40, 1996, pp. 478-481
Citations number
21
Categorie Soggetti
Education, Special",Rehabilitation,"Clinical Neurology","Genetics & Heredity",Psychiatry
ISSN journal
09642633
Volume
40
Year of publication
1996
Part
5
Pages
478 - 481
Database
ISI
SICI code
0964-2633(1996)40:<478:RCSIAA>2.0.ZU;2-V
Abstract
in this paper, the authors present the case of a 24-year-old female wi th ring 15 chromosome syndrome. Upon examination, the patient presente d with severe mental retardation, dwarfism and microcephaly, along wit h other minor dysmorphic stigmata. We compared this case with three ot her adult female cases with this chromosomal aberration. As a result, the authors observed a somewhat dysharmonious profile between the leve l of mental retardation and behavioural findings in the four women, wh ile sexual development and gonadal function seemed to be normal in ail four cases.