Journal article

Primary ovarian failure and deletions of the long arm of chromosome 3

T Nguyen, CM McDonnell, MR Zacharin

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | WALTER DE GRUYTER GMBH | Published : 2005

Abstract

A 14 year-old girl was found to have a deletion of the distal segment of chromosome 3 [46,XX,Del(3)(q28-29)]. The main features of this presentation were mild intellectual disability, facial dysmorphism, short stature, kypho-scoliosis, and primary ovarian failure, an association that has not been described before in association with chromosome 3 deletion. The phenotype and presentation are compared with those of previous case reports.