Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.

Molecular Study And Review Of The Literature On Microdeletions Of The Y Chromosome Detected By STS-PCR In Infertile Patients.

The authors report a cytogenetic and molecular study performed on 130 sterile men. Using cytogenetic analysis they detected chromosome abnormalities (15.4%) in 20 men. In the remaining 110 patients with normal karyotype, they used STS-PCR with specific primers for interval 6 of Y chromosome detecting 17 microdeletions (15%). Reviewing the literature, they found 102 microdeletions within 1539 sterile men (6.6%). According to Vogt's classification, in total, 13 microdeletions were within AZFa (12.7%), 27 within AZFb (26.4%) and 62 within AZFc (60.7%). Microdeletions of oligozoospermic patients were mostly clustered at the terminal part of AZFc within subinterval 6E, supporting the hypothesis of a specific locus for oligozoospermia in this subinterval. As regards to the realtionship between microdeletions and histology phenotype, a review of 75 testis biopsies showed that Sertoly Cells Only (SCO) was mostly confined in AZFa, while spermatogenesis arrest in AZFb and AZFc. No relationship was noted between the size and the number of microdeletions and the severity of the phenotype. The authors conclude that the review of literature confirms that microdeletions in interval 6 of the Y chromosome are strongly related with sterility in men.