Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
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ORIGINAL ARTICLE
Year : 2011  |  Volume : 133  |  Issue : 4  |  Page : 442-445

Utility of molecular studies in incontinentia pigmenti patients


Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India

Correspondence Address:
Seema Thakur
Consultant, Department of Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060
India
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Source of Support: None, Conflict of Interest: None


PMID: 21537100

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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.


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