18q-mosaicism associated with Rett syndrome phenotype.

Rett syndrome consists of a characteristic progressive encephalopathy in females. The cause of this syndrome is unknown. We present a patient with 18q-mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome.

Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples.

Data on 1040 chorionic villus and 969 amniotic fluid samples were collected from women studied in the Canadian Multicentre Randomized Clinical Trial of Chorion Villus Sampling and Amniocentesis. Cytogenetic results were obtained from 98.0 per cent of chorionic villus samples and from 99.

Gene expression and metastasis of somatic cell hybrids between murine fibroblast cell lines of different malignant potential.

We have used somatic cell hybrids to study the relationship between ras sensitivity, metastasis, and the expression of ras-responsive or "metastasis-associated" genes. We have previously shown that NIH 3T3 cells are nontumorigenic, but are made metastatic by transfection and expression of activated ras (i.e.

Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2.

We present a case of partial duplication of the short arm of chromosome 2 (karyotype 46,XX, dup [2p21-2p25]) in a newborn girl. The infant was born at 41 weeks of gestation and died approximately 3 hours after birth. At autopsy the characteristic dysmorphic features (hypertelorism, high, prominent forehead, micrognathia and low-set, malformed ears) and numerous other congenital malformations were observed.

Choroideremia associated with an X-autosomal translocation.

A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13-46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the DNA from this patient.