Utility of molecular studies in incontinentia pigmenti patients.
Article
in English
| IMSEAR
| ID: sea-135673
ABSTRACT
The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Pregnancy Complications
/
Prenatal Diagnosis
/
Incontinentia Pigmenti
/
Female
/
Humans
/
Pregnancy
/
Nuclear Family
/
Child
/
Child, Preschool
Type of study:
Diagnostic study
Language:
English
Year:
2011
Type:
Article
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