Hypomelanosis of Ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism

We describe a female infant with multiple congenital anomalies including un usual hyperpigmentation, tetralogy of Fallot, absent corpus callosum and wi de prominent nasal bridge. The infant was initially seen for genetic consul tation on day one after birth. Chromosome analysis from cultured lymphocyte s showed a normal 46,XX karyotype. However, cultured skin fibroblasts showe d mosaicism with 46,XX,add( 14)(q32).ish psu dic dup(14)(q32p13)(wcp14 +)/4 6,XX complements. A review of the published report with chromosome mosaicis m and hypomelanosis of Ito (HMI) is included. We suggest that the trisomy 1 4 mosaicism seen in fibroblast cultures has importance in the expression of pigmentation dysplasias in this patient. Pigmentary anomaly may be due to loss or gain of specific genes that influence pigmentation located on the l ong arm of chromosome 14 in this patient. (C) 2000 Editions scientifiques e t medicales Elsevier SAS.