Partial trisomy of 15q due to inserted inverted duplication

Elcioglu N., Fear C., Berry A.

CLINICAL GENETICS, vol.52, no.6, pp.442-445, 1997 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 52 Issue: 6
  • Publication Date: 1997
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.442-445
  • Istanbul University Affiliated: No

Abstract

A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3-->15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.