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 ...

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 ...

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.

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 ...

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 ...

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 ...

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 ...

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 ...

Validation of large chromosomal segment deletions by chromosome painting. (a, b) FISH assays of the chr2 barcode probes and chr2 painting probes on metaphase chromosomes prepared from LeiTing. The ...

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, ...