An excess of chromosome 1 breakpoints in male infertility.

In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group.

Chromosome sensitivity to bleomycin-induced mutagenesis in lymphocytes from colorectal cancer patients under 40 years of age.

Purpose: The incidence of colorectal cancer in young adults (under 40 years of age) is rare. The reason for the occurrence in these patients may lie in their genetic background.

Methods: We studied chromosomal fragility in peripheral blood lymphocytes of patients under the age of 40 with large bowel cancer.

Chromosome 20 long arm deletion in an elderly malformed man.

A 46,XY/46,XY,del(20)(q13-->q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.

Cytogenetic studies in patients with gastric cancer.

Banded cytogenetic studies of gastric carcinoma are still relatively scarce, comprised of only a small number of patients. This study was performed on peripheral blood lymphocytes and malignant cells of 16 patients with gastric carcinoma. The lymphocytes were analyzed by standard techniques.

Chromosomal anomaly and malformation syndrome with abdominal polyorchidism.

We describe a neonate who presented with multiple severe malformations including polyorchidism. To our knowledge this is the second case reported with ipsilateral testes located intra-abdominally. Chromosomal studies in cases of polyorchidism have been reported previously only once and the patient exhibited a normal karyotype.