XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.

We describe a large inbred Sicilian family that includes four 46, XX (SRY-) brothers. Palmoplantar hyperkeratosis (PPK) and an associated predisposition to squamous cell carcinoma (SCC) of the skin, segregates as a recessive trait within the family. Interestingly, all the PPK-affected members of the family are phenotypic males (46,XY or 46,XX) while seven XX sibs are healthy phenotypic females with no signs of PPK.

[Folate consumption in the preconception period of Sicilian pregnant women and their knowledge about the prevention of neural tube defect by folate supplementation].

Background And Aims: To define the frequency of Sicilian pregnant women taking folic acid during the periconceptional period (three months before and two months after conception) and how many are familiar with the preventive effects of folic acid on NTD.

Methods: 987 pregnant women from eastern Sicily, mainly with low incomes and low levels of education, most with secondary school certificates, underwent biochemical screening for Down's syndrome and NTD in the second trimester of pregnancy.

Results: An anencephalous fetus was diagnosed (frequency 0.

A novel mechanism for the origin of supernumerary marker chromosomes.

A ring chromosome 3 and a 47th chromosome formed by the portions of 3p and 3q distal to the r(3) breakpoints were found in a girl with mental retardation and minor facial anomalies. The supernumerary chromosome 3, rea(3), had a primary constriction inside its 3p portion (3p23) and was consistently stable both in lymphocytes and fibroblasts. In situ hybridization with alphoid probes revealed that the r(3) maintained its wild-type-centromere, whereas the rea(3) showed no alphoid-related signals.

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Two patients with trisomy 8 syndrome owing to an isodicentric 8p;8p chromosome are described. Case 1 had a 46,XX/46,XX,-8,+idic(8)(p23) karyotype while case 2, a male, had the same abnormal karyotype without evidence of mosaicism. In situ hybridisation, performed in case 1, showed that the isochromosome was asymmetrical.

Cytogenetic analysis in congenital hypothyroidism.

In order to evaluate the possible role of genetic factors in the pathogenesis of congenital hypothyroidism (CH), we investigated the occurrence of chromosome aberrations in a consecutive series of 47 patients with CH and 208 matched healthy controls. No abnormal karyotype was found in CH patients. In 5 CH patients and in 3 healthy controls a number of heterochromatin variants was detected.