Brain Imaging Links Language Delay to Chromosome Deletion in Children with ...
PHILADELPHIA, Feb. 18, 2015 /PRNewswire-USNewswire/ -- Children born with a DNA abnormality on chromosome 16 already linked to neurodevelopmental problems show measurable delays in processing sound and language, says a study team of ...
PR Newswire (press release) - Wed, 18 Feb 2015 05:05

Research may lead to future medical treatments for children with ...
News-Medical.net - Wed, 18 Feb 2015 01:49



Rare Immune Deficiency Disorder WHIM Syndrome Sees 'Spontaneous Cure ...
One of the most ruinous bodily processes involves the total rearrangement and deletion of a person's chromosomes. The phenomenon is called chromothripsis, or “chromosome shattering.” Entire pairs disintegrate into pieces, switch places, and reassemble ...
Medical Daily - Fri, 06 Feb 2015 12:24

Concomitant deletion of chromosome 16p13.11 and triplication of chromosome ...
Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation.
7thSpace Interactive (press release) - Wed, 04 Feb 2015 17:18

Hurt's Disney World wish granted
Also known as VCFS, Velo-Cardio-Facial or 22q11.2 deletion syndrome, it's caused by a defect in chromosome 22 and results in the poor development of several body systems. It manifests differently from person to person depending on what part of the 22nd ...
Shelby County Reporter - Mon, 02 Mar 2015 14:35



Genetic Deletion May Explain Language Delays in Autism
An imaging study conducted by investigators at the Children's Hospital of Philadelphia (CHOP), in Pennsylvania, showed that a deletion of a region on chromosome 16 (16p11.2) was linked to a "stunningly high" auditory processing delay known as the M100 ...
Medscape - Thu, 26 Feb 2015 07:45

Showcase, March 2015
In February 2014, FDA granted accelerated approval to ibrutinib for use in patients with previously treated chronic lymphocytic leukemia (CLL) and then, in July 2014, expanded its use to include treatment of CLL patients who carry a deletion in ...
American Pharmacists Association, pharmacist.com - Sun, 01 Mar 2015 04:11



Inspirational Ruby a rare gem with determined streak
Although Ruby has a rare chromosome deletion disability, she completed her study at St Stephen's Lutheran College while also studying her Certificate II in Child Care one day a week through CQUniversity's VET in Schools program. She did work experience ...
Gladstone Observer - Sun, 01 Mar 2015 12:37

t(14;16)-positive multiple myeloma shows negativity for CD56 expression and ...
... (ASCT).1 In contrast, t(4;14)(p16.3;q32) involving FGFR3/MMSET gene loci is associated with concomitant possession of a chromosome 13q deletion, a common IgA subtype, and a relatively unfavorable outcome even in patients receiving HDT with ASCT.
Nature.com - Fri, 27 Feb 2015 06:13


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Last update: September 2014