|Family join global campaign to fight rare chromosome disease|
22q11.2 deletion is a syndrome caused by the deletion of a small piece of chromosome 22, the second smallest human chromosome. The Max Appeal – a charity which offers help and support to sufferers and their families – has now published a consensus ...
Biggleswade Today - Thu, 16 May 2013 23:08
|Golf benefit teed up at Beloit Country Club for Baby Violet|
Baby Violet. Baby Violet, born with a rare chromosome deletion, is the daughter of Jake and Natasha Thompson. A fundraiser is being held for Violet July 6 at the Country Club of Beloit. The RSVP deadline is June 22. Posted: Tuesday, May 14, 2013 4:00 ...
Beloit Daily News - Tue, 14 May 2013 14:05
|22Q at the Zoo!|
The third-annual event aims to raise the public profile of chromosome 22Q11.2 deletion syndrome, a genetic disorder almost as common as Down syndrome. If you would like to show your support for families affected by 22Q deletion syndrome – also known ...
1011now - Sat, 18 May 2013 00:14
|Staten Island Zoo hosting event to highlight little-known syndrome|
STATEN ISLAND, N.Y. -- In an effort to bring attention to a syndrome -- caused by a missing piece or deletion of genetic material on chromosome 22 -- that affects one in every 2,000 to 4,000 newborns, the Staten Island Zoo will host a the 22Q ...
SILive.com - Thu, 16 May 2013 06:36
|MP Raises Awareness of 22q11.2 Deletion|
The event is to raise awareness of the syndrome which is caused by a missing section of chromosome 22. Present in 1 out of every 2,000-4,000 live births, the 22q11.2 deletion is almost as common as Down Syndrome. Showing his support, Alistair Burt MP ...
AboutMyArea - Tue, 30 Apr 2013 08:47
|Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an ...|
Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentricinversion, comprises a duplicated segment of 4p13~p15->4pter and a deleted segment of4q35->4qter. To date, 10 cases of recombinant chromosome 4 have been ...
7thSpace Interactive (press release) - Thu, 02 May 2013 01:34
|Gene mutation analysis may point to imprinting in newborn lung disease|
It appeared, said Sen, that the mutation was a new one (called de novo) that occurred on the chromosome the mother inherited from her father (the paternal chromosome). However ... Sen concentrates on mutations in the gene and Stankiewicz on deletions.
HealthCanal.com - Wed, 01 May 2013 14:35
|A biblical and scientific Adam|
A variation is called an “indel” (short for insertion/deletion) when one of the sequences has extra letters: .... If so, the Y chromosome is an example of a thorough-going DNA match that was not the product of ordinary mammalian reproductive processes.
World Magazine - Sat, 18 May 2013 12:21