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, cilt.19, ss.761-764, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier identifier

  • Cilt numarası: 19 Konu: 5
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1515/jpem.2006.19.5.761
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.761-764

Özet

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.