The chance of a male with severe oligozoospermia or azoospermia achieving a pregnancy has undergone a revolutionary increase with the introduction of the intracytoplasmic sperm injection technique (ICSI). However, since ICSI circumvents part of the natural sperm selection mechanisms, the possible transmission of genetic defects to the offspring is a major concern. Cytogenetic analysis is a relatively simple technique to identify at least the carriers of a chromosomal aberration before starting the ICSI procedure. In order to assess the frequency of chromosomal aberrations in male ICSI candidates, we have performed a nationwide cytogenetic study. Of the 1792 males examined, 72 (4.0%) revealed a chromosomal aberration, and one individual even had two. Numerical sex chromosomal aberrations and Robertsonian translocations predominated, followed by reciprocal translocations, inversions and supernumerary marker chromosomes. The different implications, in case a chromosomal aberration is encountered prior to ICSI, are discussed.

We report on a mother and her two sons who had a direct duplication of chromosome region 8p22-8p23.1 without dysmorphic features and only mild mental retardation. The patients have been studied using G banding, chromosome painting, and FISH using cosmid probes specific for the region 8p23.1-8pter. Comparison of the phenotypes of our patients and ofpublished patients with an inversion duplication of the short arm of chromosome 8 indicates that trisomy for chromosome band 8p2l causes the more severe clinical picture in the latter. (JrMed Genet 1995;32:792-795)

We report one patient with a de novo inversion duplication 18 (ptercen) and two cases of direct tandem duplication 18 (ptercen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstrated by high resolution banding. They were verified by in situ hybridization with a paint specific for chromosome 18 and with DNA probe LI.84 specific for the centromere region of chromosome 18. FISH with the genomic DNA probe pHRR68 specific for 18p11.32 revealed a subtle deletion concomitantly involved in the case of inversion duplication 18p. The patients exhibit slight developmental delay/moderate mental retardation and only a few dysmorphic features. The literature on trisomy 18p is reviewed and the present cases are compared to it.

We report a 40‐year‐old female with mild mental retardation and behavior problems and her 6‐year‐old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band‐specific probes, resulting in a 46,XX,dir dup(16)(pter → p11.2::p12.1 → qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature. © 2002 Wiley‐Liss, Inc.

Chromosome analysis was performed in a 34-year-old man who was phenotypically normal except for oligoasthenozoospermia. In this patient, analysis of GTG-banded chromosomes showed in one chromosome 8 additional chromosomal material of unknown origin. To characterize the aberrant chromosome more precisely, a paint specific for chromosome region 8pter-->8p23.1 was generated by microdissection and degenerated oligonucleotide primed-polymerase chain reaction (DOP-PCR) and used as fluorescence in situ hybridization (FISH) paint. After reverse painting, hybridization signals were only found on the short arm of the two chromosomes 8, with an enlarged signal on the derivative chromosome 8. The duplication was characterized further with band-specific FISH probes. We concluded that (part of) chromosome region 8p23.1-->p23.3 was duplicated. Chromosome analysis of the parents showed that the dup(8) was of maternal origin and that the fertile brother of the index patient also was a carrier of the chromosome aberration. There was no history of miscarriages. We suggest that duplication of region 8p23.1-->p23.3 can be regarded as euchromatic variant or duplication with no phenotypic effect.