PubMed · 6877371
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M H Kaufman. Chromosome abnormalities.. https://doi.org/10.1038/304482a0
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Recent technical advances in molecular biology and cytogenetics, as well as a more developmental approach to congenital heart disorders (CHDs), have led to considerable progress in our understanding of their pathogenesis, especially of the important causative role of genetic factors. The complex embryology of the heart suggests the involvement of numerous genes, and hence, numerous chromosomal loci, such as the recently identified 22q11, in normal cardiomorphogenesis. In order to identify other loci, the Human Cytogenetics DataBase was searched for all chromosome anomalies associated with CHD. Through the application of several (arbitrary) criteria we have selected associations occurring so frequently that they may not be forfuituous, suggesting assignment of a gene or genes responsible for specific CHDs to certain chromosome regions. The results of this study may be a first step in the detection of specific chromosome defects responsible for CHD, which will be useful in daily patient care and may provide clues for further cytogenetic and molecular studies.
Intracytoplasmatic sperm injection (ICSI) has improved the success rate in treating severe male infertility. The method may now be used with sperm from the epididymis and testis. This article summarizes our knowledge on genetic factors affecting male gamete formation or function. Infertile men with severe impairment of spermatogenesis showed a higher than normal incidence of chromosomal abnormalities and 10-20% had microdeletion, in the Y-chromosome. About 75% of males with congenital bilateral absence of vas deferens (CBAVD) have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In conclusion, we recommend genetic counselling to all couples with a diagnosis of male infertility prior to ICSI. Men with severe oligozoospermia or non-obstructive azoospermia should have karyotype analysis performed and with establishment of diagnostic tools to reveal Y-chromosome deletions, this should be offered to the same group of men. Men with obstructive azoospermia and congenital albilateral absence of vas deferens as well as their wives should be screened for cystic fibrosis mutations.
BACKGROUND: Cytogenetic, molecular cytogenetic, and molecular studies of prostate cancer have revealed an enormous amount of data regarding chromosomal loci that are aberrant in prostate tumors. METHODS: These data have been compared and condensed in this review to determine which chromosomes and chromosome sites have been most frequently reported. RESULTS: Loss of the Y chromosome, gain of 7, 8, and X, and interstitial deletions on 6q, 7q, 8p, 10q, 13q, 16q, 17q, and 18q are the most prevalent. CONCLUSIONS: A potential model for genetic control of tumor progression is presented, as are data regarding the evaluation of a new series of tumors.