An unusual case of chromosome 22q11 deletion syndrome with psychiatric disorder, hypoparathyroidism and precocious puberty.
J Pediatr Endocrinol Metab
; 19(5): 761-4, 2006 May.
Article
en En
| MEDLINE
| ID: mdl-16789644
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.
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Banco de datos:
MEDLINE
Asunto principal:
Pubertad Precoz
/
Cromosomas Humanos Par 21
/
Deleción Cromosómica
/
Hipoparatiroidismo
/
Trastornos Mentales
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Turquía