Purpose: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has ...

1p36 deletion syndrome is one of the most common subtelomeric microdeletion disorders, occurring in approximately 1 in 5,000 to 10,000 live births. This chromosomal abnormality results in a broad ...

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...

SAN CARLOS, Calif.--(BUSINESS WIRE)--Natera, a leading innovator in prenatal genetic testing, today announced the expansion of the Panorama™ non-invasive prenatal test (NIPT) to screen for five ...

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...

Hayley Moulding receives funding from the Medical Research Council and is a PhD student at the MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff ...

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 ...

Maria Niarchou receives funding from Wellcome Trust. This project received funding from the Medical Research Council, the Wellcome Trust and the Waterloo Foundation. The investigators would like to ...

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...

New findings are the first to suggest a potential way to predict whether children with DiGeorge syndrome will develop one of two mental impairments. The researchers report having isolated specific ...