Angelman syndrome first described in 1965
Approximately 70 per cent of individuals with Angelman syndrome have a partial maternal chromosome deletion. The CASS website says the condition occurs in about 1-in-25,000 people. AS is often undiagnosed or misdiagnosed as cerebral palsy, autism or ... - Thu, 24 Apr 2014 13:03

Burlington special needs family touched by retailer's gesture - Thu, 24 Apr 2014 12:58

Some cows' infertility linked to Y chromosome
For example, they have identified a deletion on chromosome 5 that is associated with females' inability to get pregnant, which they plan to pursue in further research. Producing calves to sell at the market every year is the main driver for beef cow ...
Phys.Org - Tue, 22 Apr 2014 03:20

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
We conclude that the gene content of the Y chromosome became specialized through selection to maintain the ancestral dosage of homologous X–Y gene pairs that function as broadly expressed regulators of transcription, translation and protein stability ... - Wed, 23 Apr 2014 10:06

New York State Conditionally Approves Natera to Offer Expanded Panorama Test
Last month, the test, which uses a blood draw to detect trisomy 21, 18, and 13, as well as monosomy X, triploidy, and sex chromosome aneuploidies, was expanded to include five microdeletions, including 22q11.2 deletion syndrome, also called DiGeorge ...
GenomeWeb - Thu, 24 Apr 2014 12:18

GF mom speaks at international global summit
Trinity was born with a chromosome disorder called 6Q25.3 deletion. What that means for scientists is that of her 23 pairs of chromosomes, one chromosome is missing its 69 genes. What that means for Trinity's family and caregivers is that she has a ...
Rossland Telegraph - Tue, 22 Apr 2014 16:40

Bailey McKae Jensen
She was born with a rare chromosome deletion and a congenital heart defect, requiring the first of many surgeries, starting at 2 weeks old. Despite the physical trials she endured, she always had a hug to give and a huge smile on her face. That smile ...
Daily Herald - Tue, 22 Apr 2014 23:16

Genetic disorder provides a calling and perspective
The syndrome involves the deletion of several genes on Chromosome 22, especially one called TBX1. This gene plays a crucial role in early development, serving as a kind of band director in a process that ferries different cells to different places in ...
Minneapolis Star Tribune - Sat, 19 Apr 2014 11:56

Former Cubs pitcher Ryan Dempster joins MLB Network
Dempster founded the Dempster Family Foundation after his now five-year-old daughter, Riley, was diagnosed with 22q deletion syndrome, a condition where a small piece of the 22nd chromosome is missing. According to the foundation's website, 180 ... - Tue, 22 Apr 2014 12:52

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Last update: April 2009