Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
Am J Med Genet
; 110(3): 273-7, 2002 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-12116237
ABSTRACT
We describe a 12-year-old boy with mosaic variegated aneuploidy (MVA), subnormal response to growth hormone (GH) stimulation testing, and short stature. In addition to features more commonly described in MVA such as microcephaly, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, ventricular septal defect, and subaortic stenosis. Chromosomal analysis revealed hyperdiploid chromosome numbers ranging from 47 to 70; modal number 50, in 24% of the metaphases. This case demonstrates that although the phenotype of MVA almost always includes growth failure, microcephaly, and mental retardation, additional features may vary greatly across individuals. His clinical features and course suggest that in addition to GH deficiency, he may have an intrinsic inability of the growth plate to respond to growth hormone.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Hormônio do Crescimento Humano
/
Cardiopatias Congênitas
/
Aneuploidia
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Estados Unidos