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

Karaguzel G., Akcurin S., Yakut S., Bircan I.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.19, sa.5, ss.761-764, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 5
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1515/jpem.2006.19.5.761
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.761-764
  • Anahtar Kelimeler: chromosome 22q11 deletion syndrome, precocious puberty, psychiatric disorder, hypoparathyroidism, CARDIO-FACIAL SYNDROME, PSEUDOHYPOPARATHYROIDISM, DIGEORGE
  • Akdeniz Üniversitesi Adresli: Evet

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.