Congenital Hearing Loss

extra chromosome disorders list :: Article Creator Find Extra Chromosome Our mission is to provide accurate, engaging news of science to the public. That mission has never been more important than it is today. As a nonprofit news organization, we cannot do it without you. Your support enables us to keep our content free and accessible to the next generation of scientists and engineers. Invest in quality science journalism by donating today. What To Know About Down Syndrome Down syndrome is a genetic condition that occurs when an error in cell division results in an extra chromosome 21. It can affect a person's cognitive ability and physical growth, and there may be a higher risk of some health problems. Down syndrome can affect a person's cognitive ability and physical growth, cause varying developmental differences, and present a higher risk of some health problems. Healthcare professionals can use a series of scre...

acromegaly genetic :: Article Creator Predictors Of Acromegaly-associated Mortality Cite this article Ben-Shlomo, A. Predictors of acromegaly-associated mortality. Nat Rev Endocrinol 6, 67–69 (2010). Https://doi.Org/10.1038/nrendo.2009.267 Download citation Share this article Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative Truth In The Folk Tales: Gigantism In Ireland Has A Genetic Origin A new study demonstrates that a benign growth on the pituitary gland causing a growth disorder called acromegaly, which in some cases may lead to gigantism, are often inherited in Northern Ireland. A genetic test on DNA samples can identify the presence of the gene presenting the risk. An international team of scientists led by Prof. Márta Korbonits from Q...

von willebrand disease during pregnancy :: Article Creator Von Willebrand Disease News, Research And Latest Updates Keep abreast with the latest news related to von Willebrand Disease there are 388 news items on von Willebrand Disease that covers updates, breakthroughs and in-depth reports. We provide you with a free downloadable secure widget for your website to carry news related to von Willebrand Disease. Von Willebrand Factor Antigen Primary Name Von Willebrand Factor Antigen Contraction VWF Ag UAB Procedure Number 2500390 CPT Code 85246 Specimen Collect one (1) blue-stopper tube (3.2% sodium citrate), filled to specified volume. Do not underfill or overfill. Specimen Management Centrifuge blue-stopper tube within one (1) hour of collection, separate plasma and test or quick-freeze at -70°C. Specimen Accepted Daily including weekends Test Performed Call Lab for Information Available Stat? No. Description The von Willeb...

isodicentric y :: Article Creator Y Combinator Luca, a startup building price planning and prediction tools for retailers, today announced that it closed a $2.5 million seed round led by Menlo Ventures with participation from Y Combinator (Luca wa Sitting through hundreds of startups on YC Demo Days, you're not always sure whether you are actually perceiving patterns or if your brain, as coffee battles with monotony, is inventing them in If you add up the fact that rival accelerators 500 Startups and Techstars have given up on their Stockholm programs, a pattern starts to emerge. Hello, and welcome back to Equity, a podcast about the business of startups, where we unpack the numbers and nuance behind the headlines. This was Y Combinator week in a sense, with the well-known ac Over 20,000 applications flew into Y Combinator, which ended up plucking out 282 startups for its latest batch. Now we're getting our first lo...

trisomy x syndrome :: Article Creator What Is Triple X Syndrome? Medically reviewed by Daniel Combs, MD Triple X syndrome (trisomy X or 47, XXX) is a genetic condition that occurs when a female is born with three X chromosomes in all or most of her cells rather than the usual two. Signs and symptoms of triple X syndrome vary widely. Some people may have no signs or symptoms, while others may experience developmental, psychological, and medical symptoms. Triple X syndrome was first described in 1959 by Scottish geneticist Patricia Jacobs, who discovered a patient with premature ovarian failure had three X chromosomes. Since then, research shows that approximately 1 in 1,000 females are born with triple X syndrome, though only 10% are diagnosed in their lifetime. This article describes the symptoms associated with triple X syndrome, how it is diagnosed, and the support and treatment options for people with it. Triple X Syndrome Sympt...

causes of down syndrome :: Article Creator A Barbie With Down Syndrome Is Already Selling Out. Here's How Kids With The Genetic Disorder Are Reacting. © Provided by Yahoo Life A Barbie with Down syndrome has been featured in the Fashionistas line. (Photo: Mattel; Illustration by Aisha Yousaf for Yahoo) Barbie may have started off as a tall, busty, blonde, but Mattel has created many iterations of the classic doll over the years. She has used a wheelchair, become curvier, and had a range of skin tones. Now, for the first time, Barbie has Down syndrome.  Kate Green's 9-year-old daughter, Lorelei, already has a large Barbie collection. When Green first showed her daughter, who has Down syndrome, the iconic doll's latest update — created in partnership from the National Down Syndrome Society (NDSS) — the young girl lit up.  "What? No way!" Lorelei gushed, her mother tells Yahoo Life. "Yay. Mommy .. Look … mine." Accor...

21q partial deletion syndrome :: Article Creator DiGeorge Syndrome (22q11.2 Deletion Syndrome) © 2022 Mayo Foundation for Medical Education and Research (MRMER). All rights reserved. A ventricular septal defect is an abnormal opening (hole) in the heart that forms between the heart's lower pumping chambers (ventricles), as shown in the heart on the right. This allows oxygen-rich and oxygen-poor blood to mix. A normal heart is shown on the left. Overview DiGeorge syndrome, more accurately known by a broader term -- 22q11.2 deletion syndrome -- is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems. The term 22q11.2 deletion syndrome covers terms once thought to be separate conditions, including DiGeorge syndrome, velocardiofacial syndrome and other disorders that have the same genetic cause, though features may vary slightly. Medical problems commonly associat...