title: An unusual case of chromosome 22q11 deletion syndrome with psychiatric disorder, hypoparathyroidism and precocious puberty.
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.
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey. gulaykg@yahoo.com
authors.forename: Gülay
authors.initials: G
authors.lastname: Karagüzel
authors.forename: Sema
authors.initials: S
authors.lastname: Akçurin
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.forename: Iffet
authors.initials: I
authors.lastname: Bircan
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002118:Calcium / Q000097:blood; D002125:Calcium Gluconate / Q000627:therapeutic use; D002648:Child; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D001523:Mental Disorders / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D011629:Puberty, Precocious / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D012559:Schizophrenia / Q000209:etiology; D014057:Tomography, X-Ray Computed
chemical_list: D007986:Luteinizing Hormone; D002125:Calcium Gluconate; D002118:Calcium