We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 ...

Microdeletions of chromosomal region 22q11 in patients with congenital cardiac malformations. J Med Genet 1993; 30: 807–812. Article CAS Google Scholar ...

"Importantly, microdeletions are not so rare in neurofibromatosis type 1. It is also becoming clear that genomic disorders caused by microdeletions, duplications and copy number variations are ...

Prenatal testing is now able to test for many potential chromosomal abnormalities even before the 10th week of pregnancy like certain trisomies, sex chromosome aneuploidies, and microdeletions in a ...

Fishing For Microdeletions That Predispose An Embryo To Develop Cancer Syndromes In Later Life Date: March 18, 2009 Source: European Society for Human Reproduction and Embryology Summary ...

"Importantly, microdeletions are not so rare in neurofibromatosis type 1. It is also becoming clear that genomic disorders caused by microdeletions, duplications and copy number variations are ...

Y-chromosome microdeletions are common in about 10-15% of men with azoospermia or severe oligospermia. These microdeletions are too small to be detected by karyotyping. They can be easily ...

Deciphering DiGeorge Syndrome: Big Advances In Understanding Microdeletions Date: March 15, 2005 Source: Cold Spring Harbor Laboratory Summary: A collaboration of European scientists has uncovered ...

The five microdeletions tested by Panorama occur with a combined incidence of approximately 1 in every 1,000 births, which for younger mothers is more prevalent than Down Syndrome.

About CFTR Gene Mutations Chromosomal Abnormalities Y- Chromosome Microdeletions Other Genetic conditions Conclusion Glossary Latest Publications Written by - Dr. Reeja Tharu, M.Phil.,Ph.D ...

Y-chromosomal microdeletions (YCMD) are one of the major genetic causes for non-obstructive azoospermia. Genetic testing for YCMD by multiplex polymerase chain reaction (PCR) is an established method ...

With accurate diagnosis, personalised treatment, and proper medical guidance, many men with genetic infertility can achieve fatherhood and experience the joy of parenthood.