Large genetic deletion leads to autism, but not always
The studies found that deletions in these regions lead to diverse symptoms that only sometimes include autism. The 16p11.2 region is among the top candidates for autism risk. Deletion or duplication of the 600-kilobase region has been found in as much ...
SFARI News - Thu, 21 Aug 2014 06:30

Why I'll do the 'pie challenge' instead
... genetic malfunction in the fifteenth chromosome. Everyone has two: one paternal and one maternal. AS occurs when something isn't normal in the maternal chromosome, whether it is a mutation of a particular band or a band deletion (68% of all diagnosis).
Cincinnati.com - Fri, 22 Aug 2014 08:41

Golfers and businesses needed to sponsor fundraiser for Beachwood teen
Brandon has a partial chromosome deletion, a condition so rare that it has no supporting charity organization. The golf outing will be held on his 18th birthday. His family is applying for any help they can. For example, until he is 18, Brandon won't ...
www.app.com - Tue, 19 Aug 2014 11:45

Growers of all ages step up to challenge
Emily is our most special daughter who was born with a rare chromosome deletion. She loves getting out in the garden with me and Heather, although she'd rather play in the mud," Karen says. Meanwhile, Aimee Broadhurst (6) from Belfast has been ...
Belfast Telegraph - Thu, 21 Aug 2014 02:56

Three novel mutations of the FBN1 gene in Chinese children with acromelic ...
Skeletal X-ray examination showed his bone age was 3-year old. His father was 170 cm tall, and his mother was 167 cm tall. He has two healthy younger sisters. His chromosome analysis was 46, XY, 19q+, whereas chromosome analysis of his parents was ...
Nature.com - Wed, 20 Aug 2014 23:16

Loss-of-function variants of SETD5 cause intellectual disability and the core ...
One patient carried a nonsense variant, and the other an 81 bp deletion located across a splice-donor site. Chromosomal microarray diagnostics further identified four de novo non-recurrent microdeletions encompassing SETD5. CRISPR/Cas9 mutation ...
Nature.com - Wed, 20 Aug 2014 03:16

Cytogenomic Analyses for Genetic Disease Detection and Diagnosis
According to physicians, current cytogenetic tests for developmental diseases tests, including G-banded chromosome analysis and fluorescence in situ hybridization (FISH), provide useful information for both clinicians and families, allowing ...
Genetic Engineering & Biotechnology News - Tue, 12 Aug 2014 20:56



Shenandoah boy with rare medical conditions in need of service dog
Like many children with Chromosome Deletion and autism, Dariel was noticeably delayed in all aspects of development early in life, such as sitting up, crawling, and talking, said Jansell. “To help with these delays, we are investigating the possibility ...
Standard Speaker - Fri, 15 Aug 2014 20:56


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