Diverse features found for autism-linked chromosome changes
The new analysis offers a clearer picture of features associated with these chromosome changes based on a detailed evaluation of 19 people with the deletion and 19 with the duplication. This study is the latest example of a 'genetics first' approach ...
SFARI News - Mon, 29 Jun 2015 05:33



Gainesville preteen fighting against all odds
Shortly after her birth in 2003, Callie was diagnosed with Williams syndrome, which is caused by the deletion of part of the seventh chromosome. The disorder affects joints, connective tissues and parts of the heart. In many cases, the walls of the ...
Gainesville Times - Fri, 03 Jul 2015 07:26

Familial chronic lymphocytic leukemia in two siblings with ATM/13q14 deletion ...
In this report, we present two siblings diagnosed with CLL, with common chromosomal aberrations and an almost identical pattern of clonal evolution, which is unusual among all published familial cases. The elder brother presented with an isolated ...
Nature.com - Fri, 03 Jul 2015 06:18



Cab Company Donates Van to Family of Disabled Girl
Shelby was born with a chromosome 6-Q deletion, which means she has the physical and mental development of a 6-month-old child and is confined to a wheelchair. A local news station did a story on how difficult it was for her family to transport Shelby ...
Patch.com - Fri, 03 Jul 2015 11:04



Wheelchair van makeover, donation for 5-year-old Palm Desert girl
She was born with a Chromosome 6-Q deletion and is confined to a wheelchair. Shelby's family struggled getting her to and from medical appointments. Yellow Cab of the desert saw the story during our newscast and donated the van to Shelby's family, but ...
KESQ - Thu, 02 Jul 2015 18:11

Fanconi anemia gene variants in therapy-related myeloid neoplasms
The association of breast and other cancers to myeloid neoplasms is frequent in Fanconi anemia (FA), a childhood syndrome characterized by chromosomal instability, developmental abnormalities, aplastic anemia and by predisposition to cancer ...
Nature.com - Fri, 03 Jul 2015 06:18



A battle of the sexes is waged in the genes
... lend credence to this idea. A team led by geneticist Paul Burgoyne and collaborators at the MRC National Institute of Medical Research in Mill Hill, UK, found that mice with a partial deletion of the Y chromosome produce offspring with a female ...
Nature.com - Fri, 26 Jun 2015 09:37

The 3q29 deletion confers >40-fold increase in risk for schizophrenia
The 1.4-Mb deletion on chromosome 3q29 was first described in 2005 and is associated with a range of neurodevelopmental phenotypes, including developmental delay, intellectual disability (ID) and autism. Prior data has implicated the same deletion as a ...
Nature.com - Tue, 09 Jun 2015 01:05


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