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

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

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

• Publication Type: Article / Article
• Volume: 19 Issue: 5
• Publication Date: 2006
• Doi Number: 10.1515/jpem.2006.19.5.761
• Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.761-764
• Karadeniz Technical University Affiliated: Yes

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.