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22q syndrome :: Article Creator

Gene For DiGeorge SyndromeThe Scientist Magazine®

DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome) is associated with hemizygous deletion of a region of human chromosome 22q11, causing a range of abnormalities including cardiovascular defects, hypoplasia of the thymus and parathyroid gland, and craniofacial abnormalities.

Three research groups have identified the TBX1 gene, a member of the T-box family of transcription factors, as a key determinant of the DGS phenotype. Merscher et al. (Cell 2001, 104:619-629) and Lindsay et al. (Nature 2001, 410:97-101) used chromosomal engineering induced using the Cre recombinase and artificial chromosome transgenesis to localize the haplosufficiency region on the mouse chromosome, chromosome 16, that corresponds to the human disease region.

This region contains the TBX1 gene, expression of which in the pharyngeal arches makes it a strong candidate gene for DGS. Both groups, together with Jerome and Papaioannou (Nature Genetics 2001, 27:286-291), show that TBX1 haploinsufficiency in mice causes cardiovascular defects and anomalies of ...


DiGeorge Syndrome, A Rare Genetic Disease, Could Be ... - CBS News

Could diagnosing rare genetic disorders one day be as simple as snapping a picture with a smartphone? That's what a new study suggests.

Researchers with the National Institutes of Health's National Human Genome Research Institute (NHGRI) successfully used facial recognition software similar to that found in airports and on Facebook to diagnose a rare genetic disease called 22q11.2 deletion syndrome using photos alone.

The disease, also known as known as DiGeorge syndrome, can be difficult to diagnose in diverse populations since it leads to multiple defects, including heart problems, hearing loss, a cleft palate and other distinctive facial features. Yet early intervention can be critical to getting patients the right care.

Patients with DiGeorge syndrome, a rare genetic disease American Journal of Medical Genetics/National Human Genome Research Institute

"Human malformation syndromes appear different in different parts of the world," Dr. Paul Kruszka, a geneticist in NHGRI's Medical Genetics Branch, said in a statement. "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations."

Doctors in 11 countries submitted 101 photos for use in the study, published last week in the American Journal of Medical Genetics. The researchers then used facial analysis technology to compare a group of 156 Caucasians, Africans, Asians and Latin Americans suffering from the disease with people who don't have it.

Based on 126 individual facial features, they correctly diagnosed all ethnic groups 96.6 percent of the time, the researchers say. Their data is now part of the NIH's Atlas of Human Malformation Syndromes in Diverse Populations, a resource launched last year to help clinicians diagnose birth defects and genetic diseases.

Doctors took the photos for the study using whatever photographic equipment they had available. But in an era when smartphones are already helping people determine if they have urinary tract infections and pre-clampsia, Marius George Linguraru, who developed the software, sees those devices as having the most potential reach in helping doctors make quick assessments.

"Eventually, we will have a simple tool that would enable doctors in clinics without state-of-the-art genetic facilities to take pictures of their patients on a smartphone and receive instant results," said Linguraru, an investigator at the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children's National Health System in Washington, D.C.

Before that can happen, more clinical studies will be needed, as will FDA approval.

The study on DiGeorge syndrome is the second in an NHGRI series testing facial recognition software as a tool to diagnose inherited diseases in diverse populations. The first looked at Down syndrome, and the next will focus on Noonan syndrome and Williams syndrome, both rare but seen by many clinicians.

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Mercy's Story: Living Life With 22q, A Genetic Condition - WECT TV6

SHALLOTTE, N.C. (WECT) -Mercy Little is a fun-loving nine-year-old from Shallotte who loves art, playing with her brother and sisters, and spending time with her family.

At first glance, she seems completely normal, but her life has been riddled with health concerns.

After years of sleep problems, broken bones, and even heart defects was a riddle.

Two years ago, they finally got an answer, Mercy was diagnosed with DiGeorge Syndrome also known as 22q11.2 deletion syndrome.

"I had never heard of it, I've even talked to doctors who had never heard of it before," said, Milissa Little, whose granddaughter was diagnosed with 22q.

So what is 22-q?

It's the result of a missing piece of the 22nd chromosome which is a tiny genetic disorder that can have a big impact on every system in the human body making daily life difficult for those living with the disease.

"Whenever I get a fever, I have to go to the hospital," said Mercy Little who was diagnosed with 22q.

The disease has 180 symptoms and impacts everyone differently. Given the wide range of health issues pinpointing a treatment can be tough.

But, the hope is combating the disease younger in life can lead to a longer life.

"The earlier that you intervene, the better the outcome for the child," said Little.

The Littles say simply knowing about 22q and its symptoms can help families seek testing sooner and get answers.

"I just want people to be aware that it is something so that they can look at it online. Watch your kid, if they have several symptoms and be like is this something that I need to talk to my doctor about," said Little.

So what's next for Mercy? She's set to see the only 22-q specialist in the state and still, there are many unknowns, "it's kind of a mystery at this point for me," said Little.

For Mercy her ultimate goal is crystal clear, she just wants to be like any other girl, "I want to run like all the other kids and be treated like them," said Mercy Little.






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