Quiet boy with a missing piece of chromosome
“With 22q there can be up to 180 symptoms or side effects that come with this chromosome deletion. Caleb has been blessed with a few of them but he's not as extreme as some children are, thank God. He has learning challenges in school with math as far ...
Royal Gazette - Wed, 19 Nov 2014 04:11

The new genetic disorder every mom needs to know about
It's the most common deletion syndrome, meaning there is a missing section from one of the 46 chromosomes that make up our DNA. Unlike conditions like Turner Syndrome, where a whole chromosome is missing, or Down Syndrome, where there's an extra ...
Fox News - Sun, 26 Oct 2014 03:04

Stem Cells to Repair Broken Chromosomes: Medicine's Next Big Thing?
It's caused by a loss of part of a chromosome, chromosome 17, the tip of the short arm, AND about two million base payers or more are deleted on one of the chromosomes to cause the disease of lissencephaly, it's a special type called Miller Dieker ...
KSAT San Antonio - Fri, 07 Nov 2014 13:33

HORLYK: Sioux City twins thrive despite immune disorder
DiGeorge syndrome (or 22q11.2 deletion syndrome) is caused by the deletion of a small piece of chromosome 22, according to Steven Joyce, Mercy Medical Center physician of internal medicine and pediatrics. "The syndrome can sometimes be spotted ...
Sioux City Journal - Sat, 22 Nov 2014 06:01

Learning difficulties mark male mice with autism mutation
In the new study, researchers looked at male and female mice lacking one copy of a segment of chromosome 16 called 16p11.2. Deletion or duplication of 16p11.2 occurs spontaneously in roughly 1 percent of people with autism. It arises about equally ...
SFARI News - Wed, 19 Nov 2014 10:00

How a young family deals with their daughter's rare genetic disorder
Dylane suffers from a rare genetic disorder known only as chromosome 1q43-q44 deletion syndrome. By what the parents have been told, only about 50 other cases have been identified in the world since a first study in 1976. With it, as often as twice a ...
Montreal Gazette - Tue, 18 Nov 2014 11:57

Feisty mice may reveal autism gene's link to aggression
The disorders result from a deletion or duplication, respectively, of the 15q11-13 chromosomal region, which includes UBE3A. Children with Angelman syndrome lack one copy of the 15q11-13 region, whereas those with dup15q syndrome have one or two ...
SFARI News - Thu, 20 Nov 2014 11:51

Mum's shock as husband and son both hit by rare chromosome disorder
The Syddalls, Kelsey aged six, Jamie, Fiona, Alex aged 14 and jamie aged four. Fiona Syddall's husband and youngest son, both called Jamie, have a rare chromosome disorder which was diagnosed last December. Theyre putting on a Christmas party to ...
The Bolton News - Thu, 20 Nov 2014 01:16

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Last update: September 2014