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

---

Atıf İçin Kopyala

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

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

• 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
• Karadeniz Teknik 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.