Lipid anomaly in a child with partial duplication 3p.
Eur Rev Med Pharmacol Sci
; 2(3-4): 127-9, 1998.
Article
em En
| MEDLINE
| ID: mdl-10546407
ABSTRACT
The authors report a case regarding a 7-year-old girl affected by short height, bone growth delay, lipidic alterations (hypercholesterolemia, hypertriglyceridemia and high apolipoprotein B values) and by a partial duplication of the short arm of the third chromosome 46,XX, dup(3)(p26-pter). This chromosomal alteration appears "de novo", as the parent's karyotypes are normal and none of the patient's next of kin showed evidence of lipidic anomalies. The patient's short height and slight frontal bossing were the only features that could be described as typical of the dup3p syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 3
/
Aberrações Cromossômicas
/
Duplicação Gênica
/
Erros Inatos do Metabolismo Lipídico
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Eur Rev Med Pharmacol Sci
Assunto da revista:
FARMACOLOGIA
/
TOXICOLOGIA
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Itália
País de publicação:
IT
/
ITALIA
/
ITALY
/
ITÁLIA