To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocytes; furthermore, the abnormal cell line was confined to the Department of hypopigmented epidermis and the norDermatology, mal epidermis contained only normal
Loss of chromosome 22 identifies high risk Wilms tumors. The prognostic significance of 1q gain, 16q loss and unbalanced translocation der(16)t(1q;16q) is unresolved and warrants further investigation.
T18 is increasing in prevalence because of maternal age and earlier surveillance. Prenatal diagnosis occurs mostly in the first trimester, without the intrinsic structures of a formal screening programme. These findings support the extension of first trimester combined screening to include T18 and T13.
We report here an apparently normal CVS QF-PCR result that was completely discrepant with the trisomy 18 positive karyotype result on long-term culture. This has important implications regarding our current testing protocol.
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