An unusual case of chromosome 22q11 deletion syndrome with psychiatric disorder, hypoparathyroidism and precocious puberty.
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.
Karagüzel
Gülay
G
Division of Pediatric Endocrinology, Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey. gulaykg@yahoo.com
Akçurin
Sema
S
Yakut
Sezin
S
Bircan
Iffet
I
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
D007986:Luteinizing Hormone; D002125:Calcium Gluconate; D002118:Calcium