contained a chromosome 7 abnormality (also mostly monosomy 7). Four of 11 patients with complex karyotype including aberrations of chromosome 7 showed cytogenetic responses (Figure 1; Table 1) compared with 2 responders of 9 patients with complex karyotype not containing a chromosome 7 abnormality. This high response rate in patients with chromosome 7 abnormalities is in stark contrast to the n...

BACKGROUND Preimplantation genetic diagnosis (PGD) has been stated to improve live birth rates compared with natural conception in couples with recurrent miscarriage (RM) carrying a structural chromosome abnormality. It is unclear to what extent this claim can be substantiated by evidence. A systematic review of the literature was performed on the reproductive outcome of these couples after nat...

BACKGROUND The annual number of parental karyotypes in cases of repeated miscarriage is increasing gradually in The Netherlands. The efficiency of offering parental karyotyping in couples with repeated miscarriage has not been evaluated before, especially not for the group with miscarriages at advanced maternal age. METHODS A historical cohort study and nested case-control study were conducte...

BACKGROUND Chromosome abnormality (CA) including Sex chromosomes abnormality (SCAs) is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. OBJECTIVE This study describes cytogenetic findings of cases suspected ...

The ring chromosome is a circular, structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends. This chromosomal rearrangement is often unstable with frequent recombinations and may be accompanied by either loss or amplification of genetic material[1]. Considering that ring chromosomes are rare in acute myelogenous leuk...

Urinary cells obtained from voided urine specimens of 46 patients with urothelial carcinomas (UCs) and 10 normal individuals were analyzed with 3 different centromeric fluorescence in situ hybridization (FISH) probes. The overall sensitivity of cytology was 48.9% compared to 95.7%with the FISH technique. The minimum values were found for stage Ta and grade 1 (90.5 and 89.4) and sensitivity of F...