A mother says her “gut instinct” told her something was wrong with her baby boy immediately after she gave birth — and doctors soon delivered a devastating diagnosis. Hannah Doyle’s son, Zander, was ...

Ideograms and partial karyotypes are shown. For the deletions, the arrows indicate a) the deletion of chromosome 15q11-13 associated with Prader-Willi and Angelman syndromes, and b) the deletion of ...

CHROMOSOME deletions are ideal material for identifying gene loci, by the correlation of the absence of part of a chromosome with a particular phenotype. We have recently studied a child who ...

Deletion mapping allows geneticists to answer several questions about a specific gene. It can determine where a deleted region of a gene is located, whether this deletion affects only the area in ...

EBV-positive lymphoproliferative disease with medullar, splenic and hepatic infiltration after imatinib mesylate therapy for chronic myeloid leukemia with two relapses and rituximab resistance No ...

Researchers at the Francis Crick Institute studying male mice engineered with different Y chromosome deletions have uncovered which genes on the mouse Y chromosome regulate the development of sperm ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

In a recent study posted to the medRxiv* preprint server, a group of researchers identified large deletions in individuals with unexplained hyperinsulinism (HI), thereby elucidating the potential ...

A new study by a US research consortium has discovered that a small segment of chromosome 16 is either missing or duplicated in about 1 per cent of people with an autism spectrum disorder (ASD). What ...

Her-2/neu Overexpression and Amplification in Uterine Papillary Serous Carcinoma Adult patients with pathologically proven LGOT with progressive disease on magnetic resonance imaging (MRI) were ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease, ...