Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth.
Am J Med Genet A
; 143A(22): 2696-9, 2007 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-17935233
ABSTRACT
Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver-Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre- and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 7
/
Fibrose Cística
/
Dissomia Uniparental
Limite:
Child, preschool
/
Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
França