Genetic causes have a considerable involvement in infertility. Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. Consequently, occurrence of aneuploid embryos will lower...

OBJECTIVE Firstly, to assess the completeness of ascertainment in the National Congenital Anomaly System (NCAS), the basis for congenital anomaly surveillance in England and Wales, and its variation by defect, geographical area, and socioeconomic deprivation. Secondly, to assess the impact of the lack of data on pregnancies terminated because of fetal anomaly. DESIGN Comparison of the NCAS wi...

klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

We investigated the frequency and types of Y-chromosome microdeletions and chromosomal anomalies in non-obstructive azoospermic and severely oligozoospermic infertile males in northeastern China. The sample consisted of 519 infertile males (456 azoospermic, 63 severely oligozoospermic). PCR assays for Y-chromosome microdeletions and chromosome analysis were performed on all patients and co...

GENETIC imbalance, the result of aneuploidy or chromosomal structural rearrangements, is now recognized as a cause of anomalous embryogenesis. In general, the anomalies have been extensive and severe when the chromosomal abnormalities have affected segments lengthy enough to be detected by use of currently available techniques. The purposes of the present study were: (1) to determine the incide...

OBJECTIVE To report the type and frequency of chromosomal anomalies and Y-microdeletions among Hong Kong Chinese subfertile men with sperm concentrations lower than 5 million/mL. DESIGN. Retrospective study. SETTING A reproductive centre in Hong Kong. PARTICIPANTS A total of 295 Chinese subfertile men who underwent both karyotyping and Y-microdeletion studies from 2000 to 2007 were categori...

Background Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materia...