Case Report · Journal of Intellectual Disability Research · Vol. 40 · 1996 · pp. 478–481

Ring Chromosome 15 Syndrome
in an Adult Female

T. Matsuishi1, Y. Yamada2, K. Endo2, H. Sakai3 & Y. Fukushima4
1 Yokohama National University, Faculty of Education and Human Sciences, Department of Special Education
2 Yokohama City University School of Medicine, Department of Psychiatry
3 Kanagawa Rehabilitation Center
4 Kanagawa Children’s Medical Center
Originally published · Journal of Intellectual Disability Research · Vol. 40 · Issue 5 · October 1996 · pp. 478–481

Abstract

In this paper, the authors present the case of a 24-year-old female with ring 15 chromosome syndrome. Upon examination, the patient presented with severe mental retardation, dwarfism and microcephaly, along with other minor dysmorphic stigmata. We compared this case with three other adult female cases with this chromosomal aberration. As a result, the authors observed a somewhat dysharmonious profile between the level of mental retardation and behavioural findings in the four women, while sexual development and gonadal function seemed to be normal in all four cases.

· · ·