Rare genetic variants of large effect can help elucidate the pathophysiology of brain disorders. Here we expand the clinical and genetic analyses of a family with a (1;11)(q42;q14.3) translocation ...
Genomic DNA was purified from cultured cells from products of conception (POC) by standard methods. CGH was performed by Nimblegen Systems Inc. (Madison, WI, USA) using chromosome-specific tiling ...
A NEW familial syndrome associated with a translocation between a chromosome No. 3 and a member of the B group (No. 4–5) is described in this report. Among the many family members, 6 infants were ...
Second cancers following pediatric Hodgkin's disease. Translocation (1;19)+ patients were more likely than t(1;19)- patients to be 10 years of age or greater (P < .001) or CD10+ CD19+ CD34- (P < .0001 ...
Background: Preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangement (PGT-SR) have been widely used within indications of previous miscarriages, repeated implantation ...
Robertsonian translocation is the most common form of chromosomal translocation in humans. It means that two chromosomes, the structures that make up a person’s DNA, join together in an abnormal way.
Inside of each of your cells are thread-like structures made up of parts called chromosomes. These tightly wound threads are what people mean when they refer to your DNA. It’s a blueprint for cell ...
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