ABSTRACT
Five cases in which phenotypic abnormalities were found in association with apparent balanced chromosomal translocations are described. In 3 patients, one of the parents was found to be a carrier of the same translocation. In a further patient, the translocation was shown to be de novo and in the remaining patient the father was not available for chromosome studies. In a review of the literature the breakpoints in 36 familial balanced translocations were compared with 40 de novo translocations (including the present cases) all associated with phenotypic abnormalities. No common translocation was found in these groups, but it was observed that chromosomes 4 and 5 were significantly more involved in de novo translocations than in familial translocations. The possible aetiology and implications for prenatal diagnoses are discussed.
Subject(s)
Chromosome Aberrations/genetics , Translocation, Genetic , Adolescent , Child , Child, Preschool , Chromosome Banding , Chromosome Disorders , Female , Humans , Infant, Newborn , Karyotyping , Male , PhenotypeABSTRACT
Chromosome studies were performed on 106 men with azoospermia and 390 men with oligozoospermia (consistent sperm count below 10 million/ml). Constitutional chromosome abnormalities were found in 14.1% of the azoospermia group and in 5.1% of the oligozoospermia group. An overall incidence of 7.1% constitutional abnormalities indicates that this criterion of selection may be advisable for routine chromosome analysis of infertile men. A reduction of 25% in the workload increases the yield of chromosome abnormalities in the group of infertile men to 10-14 times above that expected in the normal population.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Oligospermia/genetics , Sperm Count , Humans , Karyotyping , Male , Sex Chromosome AberrationsABSTRACT
Of 27 specimens of abortus tissue from first-trimester spontaneous abortions investigated, 26% had chromosome abnormalities. In contrast, the investigation showed that the incidence of chromosome abnormalities in 36 midtrimester cases was only 2,8%. Two of 19 ectopic pregnancies had abnormal chromosome complements.
