Prenatal cytogenetic assessment and inv(2)(p11.2q13).

Objectives: To present a series of prenatally detected cases of recurrent pericentric inversions with euchromatic breakpoints and to review the literature to determine whether parental karyotyping is required for genetic counselling.

Methods: Cases of recurrent pericentric inversions with euchromatic breakpoints were collected from Canadian Cytogenetic Laboratories. Cases included inversions for chromosome 1(p13q21), chromosome 2(p11.

Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects.

We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia or velofacial or cardiac abnormalities at the time of diagnosis, which masked underlying DG.

A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature.

Objective: To report fragility at 10q23.3 in a fetus exposed to phenytoin during pregnancy. Review of the literature.

Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat.

The isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or by FISH-detectable microdeletions of the 17p13.3 region, which carries the LIS1 gene. These have various patterns of phenotypic presentations, including the Miller-Dieker syndrome (MDS).

Regulation of cisplatin resistance and homologous recombinational repair by the TFIIH subunit XPD.

We have recently completed screening of the National Cancer Institute human tumor cell line panel and demonstrated that among four nucleotide excision repair proteins (XPA, XPB, XPD, and ERCC1), only the TFIIH subunit XPD endogenous protein levels correlate with alkylating agent drug resistance. In the present study, we extended this work by investigating the biological consequences of XPD overexpression in the human glioma cell line SK-MG-4. Our results indicate that XPD overexpression in SK-MG-4 cells leads to cisplatin resistance without affecting the nucleotide excision repair activity or UV light sensitivity of the cell.