An unusual case of chromosome 22q11 deletion syndrome with psychiatric disorder, hypoparathyroidism and precocious puberty


KARAGÜZEL G., Akcurin S., yakut s., Bircan İ.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.19, no.5, pp.761-764, 2006 (SCI-Expanded) identifier identifier identifier identifier

Abstract

Deletions of chromosome 22q11 cause a wide range of phenotypes; even affected members from the same family may present with different phenotype. We present an 11-3/12 year-old boy who has 22q11 deletion in a hitherto unreported combination with psychiatric disorder, hypoparathyroidism and precocious puberty. Whether precocious puberty is a clue for chromosome 22q11 deletion syndrome is also discussed.