A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

Aneuploidy can be defined as extra or missing whole chromosomes in the nucleus of a cell and occurs during cell division when chromosomes do not separate equally between the two new daughter cells (Hassold & Hunt 2001). Chromosome imbalance typically results in non-viability, manifesting as developmental arrest prior to implantation, miscarriage or stillbirth. Depending on the chromosomes invol...

Flow cytometric nuclear DNA content (DNA ploidy) was measured in paraffin-embedded surgical specimens of 87 patients with primary lung cancer. Of the 87 tumor tissues, 17 (19.5%) showed a normal DNA stemline (DNA diploidy), and 70 (80.5%) an abnormal DNA stemline (DNA aneuploidy). Patients with DNA aneuploid tumors had significantly shorter survival times than those with DNA diploid tumors (p <...

The ability to identify oocytes with the greatest potential for producing a viable embryo would be of great benefit to assisted reproductive treatments. One of the most important defects affecting oocytes is aneuploidy. Aneuploidy is also closely related with advancing maternal age, a phenomenon not well understood. This study combined a comprehensive cytogenetic investigation of 21 oocytes wit...

Aneuploidy is frequently observed in many human cancers, but its global effects on the cancer transcriptome are controversial. We did a systematic and unbiased genome-wide survey to determine the extent a tumor’s abnormal karyotype (chromosomal amplifications and deletions) is detectably ‘‘imprinted’’ onto that tumor’s gene expression profile. By using a novel methodology employing wavelet tran...

The endocycle is amodified cell cycle that lacksMphase. Endocycles are well known for enabling continued growth of post-mitotic tissues. By contrast, we discovered pre-mitotic endocycles in precursors of Drosophila rectal papillae (papillar cells). Unlike all known proliferative Drosophila adult precursors, papillar cells endocycle before dividing. Furthermore, unlike diploid mitotic divisions,...

OBJECTIVE To characterize chromosomal error types and parental origin of aneuploidy in cleavage-stage embryos using an informatics-based technique that enables the elucidation of aneuploidy-causing mechanisms. DESIGN Analysis of blastomeres biopsied from cleavage-stage embryos for preimplantation genetic screening during IVF. SETTING Laboratory. PATIENT(S) Couples undergoing IVF treatment...

OBJECTIVES To determine whether a history of a previous aneuploid conception increases the rate of aneuploidy among women having preimplantation diagnosis (PGD). METHODS Preimplantation embryos were tested for aneuploidy using FISH probes specific for chromosomes 13,15,16,17,18,21,22,X and Y. Using logistic regression to control for maternal age, we compared the rates of aneuploidy and other ...

Complex rearrangements such as de novo translocations together with aneuploidy are unusual situations in prenatal diagnosis. We report a case with de novo translocation t(1;12)(q21.3;p11.2) and trisomy 21. Father’s sperm was analyzed for potential of increased risk of aneuploidy. Results showed no paternal increased risk for chromosomes 13, 18, 21, X, Y. Based on our results, we suggest that po...