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About 1,428 results

ALLMedicine™ 22q11.2 Deletion Syndrome Center

Research & Reviews  560 results

Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 2...
https://doi.org/10.1177/10556656221100674
The Cleft Palate-craniofacial Journal : Official Publicat... Kollara L, Perry JL et. al.

May 17th, 2022 - Velopharyngeal dysfunction (VPD) associated with 22q11.2 deletion syndrome (22q11.2DS) has a complex etiology. This study had 3 aims: (1) assess differences in velopharyngeal and levator muscle configuration during rest versus sustained speech pro...

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong asso...
https://doi.org/10.1002/ajmg.a.62763
American Journal of Medical Genetics. Part A; Mastromoro G, Calcagni G et. al.

May 3rd, 2022 - Crossed pulmonary arteries (CPAs) represent an uncommon anatomic variant, usually associated with some specific syndromes and conotruncal defects. This finding has been described in 22q11.2 Deletion Syndrome (22q11.2DS). We evaluated the correlati...

Hybrid Single-Stage Repair of Kommerell's Diverticulum in a Right Aortic Arch in a Pati...
https://doi.org/10.1177/15385744221090911
Vascular and Endovascular Surgery; Chourda E, Putotto C et. al.

Apr 21st, 2022 - Hybrid single-stage repair of Kommerell's diverticulum in a right aortic arch.Aortic arch anomalies, isolated or associated with congenital heart defects, are cardiovascular manifestations frequently associated with 22q11.2 deletion syndrome. Komm...

Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Synd...
https://doi.org/10.1177/01945998221094219
Otolaryngology--head and Neck Surgery : Official Journal ... Wu SS, Mahomva C et. al.

Apr 20th, 2022 - To identify inner and middle ear anomalies in children with 22q11.2 deletion syndrome (22q11DS) and determine associations with hearing thresholds. Retrospective study. Two tertiary care academic centers. Children presenting with 22q11DS between 2...

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Clinicaltrials.gov  3 results

Arithmetic Abilities in Children With 22q11.2DS
https://clinicaltrials.gov/ct2/show/NCT04373226

Jan 27th, 2022 - Children with 22q11.2 deletion syndrome often have arithmetic learning disability because of magnitude representation impairment. Previous works suggested that magnitude representation impairment could be a result of endogenous visuo-spatial atten...

First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome
https://clinicaltrials.gov/ct2/show/NCT03375359

Jan 12th, 2022 - Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum ...

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
https://clinicaltrials.gov/ct2/show/NCT00556530

Sep 5th, 2021 - 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Most people with this disorder are missing a sequence of about 3 million DNA building blocks on chromosome 22 within each cell. This disorder affects...

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News  7 results

Calcium-Channel Abnormalities Underlie Genetic Cause of Schizophrenia
https://www.medscape.com/viewarticle/938993

Oct 14th, 2020 - NEW YORK (Reuters Health) - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I...

Calcium-Channel Abnormalities Underlie Genetic Cause of Schizophrenia
https://www.staging.medscape.com/viewarticle/938993

Oct 14th, 2020 - NEW YORK (Reuters Health) - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I...

Product Update: Natera’s Panorama NIPT; Solosec from Symbiomix Therapeutics
https://www.mdedge.com/node/150332/path_term/49726

Oct 30th, 2017 - NIPT SCREENING FOR TWIN ZYGOSITY AND GENETIC RISK FACTORS The Natera® Panorama® non-invasive prenatal test (NIPT) now screens twin pregnancies for zygosity and chromosomal abnormalities. Natera says that Panorama is the first NIPT that can determi.

What Is Chromosome 22q11.2 Deletion Syndrome, and Why Do You Need to Know?
https://www.medscape.com/viewarticle/866043

Jul 18th, 2016 - I'm Donna McDonald-McGinn, a clinical professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania. I'm also director of the 22q and You Center, chief of the Section of Genetic Counseling, and associate director of ...

Scientists Closer to Predicting DiGeorge Syndrome Prognosis
https://www.medscape.com/viewarticle/849188

Aug 6th, 2015 - UPDATED August 10, 2015 // Children with 22q11.2 deletion syndrome (22q11.2DS), also known as DiGeorge syndrome, have different patterns of gene expression, depending on whether they develop autism or psychosis, new research shows. The study, whic...

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Patient Education  1 results see all →