X/ autosomal translocation in a patient with Ito's hypomelanosis (incontinentia pigmenti achromians) [FIFTH INTERNATIONAL CONGRESS OF HUMAN GENETICS]
Por:
Castillo J., Carnevale A., Ruiz Maldonado R.
Publicada:
1 ene 1976
Resumen:
Ito's hypomelanosis or incontinentia pigmenti achromians is a disease characterized by hypopigmented macular lesions of the skin with a linear or band like pattern resembling the negative picture of incontinentia pigmenti (Bloch Sulzberger). Mental, bony and ocular manifestations are found in some cases. The pathogenesis is unknown and a family with multiple cases has suggested an autosomal dominant inheritance. The present study concerns a girl with mental retardation, convulsions, minor congenital anomalies and hypopigmented lesions. Clinical and histological diagnosis of incontinentia pigmenti achromians was made. Her karyotype revealed an apparently balanced Xq/15q translocation. X inactivation was investigated by autoradiographic analysis.