Genetic digeorge syndrome. Medical search. Frequent questions

DiGeorge syndrome (DGS) is one of a group of phenotypically similar disorders-including velocardiofacial syndrome (VCFS, or Shprintzen syndrome) and conotruncal anomaly face (CTAF) syndrome-that share a microdeletion of chromosome 22q11.2, a region known as the DGS critical region (see the image below). (medscape.com)
alternate names include Velocardiofacial syndrome, Shprintzen Syndrome, and chromosome 22q11.2 deletion syndrome (the majority of affected individuals lack a distinct part of the long arm of chromosome 22). (wikipedia.org)
Velocardiofacial syndrome is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial anomalies, and learning difficulties. (wikipedia.org)
Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. (researchgate.net)
Recognition of the features associated with velocardiofacial syndrome allows for an inclusive diagnosis and more comprehensive care. (researchgate.net)
It has previously been known as Velocardiofacial Syndrome and Di George Syndrome, for the pediatric endocrinologist who described it in the 1960s. (science20.com)
A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome? (bmj.com)
E ditor -DiGeorge syndrome (DGS, MIM 18840) and velocardiofacial syndrome (VCFS, MIM 192430) are associated with interstitial deletions of chromosome 22q11.2 and are considered to be phenotypic variations of the same underlying genetic defect. (bmj.com)
22q11.2 deletion syndrome, formerly known as DiGeorge or velocardiofacial syndrome, is a multisystem disorder with variable severity and number of associated features, classically including developmental delay, learning difficulties, congenital cardiac anomalies, palatal abnormalities, especially velopharyngeal insufficiency, hypocalcemia, and subtle facial dysmorphism. (unboundmedicine.com)
The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. (cdc.gov)

DESCRIPTION (provided by applicant): DiGeorge syndrome (DGS)/velo-cardio-facial syndrome (VCFS) is one of the common genetic disorders and affects approximately one in 4000 livebirths. (elsevierpure.com)

DiGeorge Syndrome is one of the most common genetic disorders known, occurring in about one every 4,000 livebirths. (wikipedia.org)
The authors mention phenylketonurea and maple syrup urine disease (which affect the metabolism of certain amino acids) as possible genetic disorders that could be tracked and their harmful effects mitigated by imposing a special diet on the patient. (theinterim.com)
In all, Reuters reports that there are about 3,000 possible genetic disorders that theoretically could be identified. (theinterim.com)
It's also designed, the researchers wrote in BioInformatics , to detect the small CNVs that are linked to significant genetic disorders such as DiGeorge syndrome and Prader-Willi syndrome, and to do so in a more sensitive manner than can existing methods. (genomeweb.com)
It is routinely used to identify the whole chromosome aberrations that underlie conditions such as Down syndrome, "but can we push it to identify smaller changes … that could lead to significant disorders but are not the size of a whole chromosome? (genomeweb.com)
Microdeletion tests, designed to look for genetic disorders in the unborn, are wrong about 85% of the time, the report indicates. (aboutlawsuits.com)
It included data from 53 fetal subjects with genetic disorders. (auntminnie.com)
The team suggested that these findings could provide evidence of genetic disorders early in pregnancy. (auntminnie.com)
When the genetic basis of 22q11.2 syndrome was identified, it was discovered that several other conditions thought to be different disorders were all in fact part of the same condition. (medicover-genetics.com)
Autism spectrum disorders (ASDs) are pervasive developmental disorders that include autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS). (biomedcentral.com)
Because deletion of 22q11 is also associated with high rates of schizophrenia, obsessive compulsive disorder, and attention deficit hyperactivity disorder, the outcome of this project will have significant implications for a better understanding of the genetic mechanisms of these neuropsychiatric disorders as well. (elsevierpure.com)
Because hemizygosity of this chromosomal region is associated with many neuropsychiatric disorders and behavioral abnormalities, the outcome of the proposed studies will contribute to a better understanding of the genetic mechanisms underlying neuropsychiatric disorders, including schizophrenia. (elsevierpure.com)
The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. (ferienwohnung-uelsen.de)
In addition, understanding the underlying disruption of brain development due to DiGeorge syndrome provides an opportunity to identify how these disorders might arise due to incomplete genetic instructions for building a brain. (gyanns.com)
Inadequate maternal weight gain, cannabis use during pregnancy, and birth order have been identified as 3 new potential risk factors for Tourette syndrome and chronic tic disorders in children, new research shows. (medscape.com)

Simon and Angkustsiri said that the parents of children with 22q deletion syndrome often had commented that their children "seemed different" from other children with autism diagnoses, but that they hadn't discovered a better diagnosis. (science20.com)
The availability of genetic testing enables accurate diagnosis of affected children, discovery of carriers and prospective counselling as well as prenatal diagnosis of Sanjad Sakati syndrome in high-risk families. (who.int)
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. (columbianephrology.org)
The abnormal " coeur-en-sabot " (boot-like) appearance of a heart with tetralogy of Fallot is easily visible via chest x-ray, and before more sophisticated techniques became available, this was the definitive method of diagnosis. (findmeacure.com)
Early diagnosis of 22q11.2 Deletion Syndrome is critical for providing effective intervention. (mellaly.com)
The diagnosis usually involves genetic testing, which can identify the deletion of chromosome 22. (mellaly.com)
Recognizing the symptoms of 22q11.2 Deletion Syndrome is also crucial for diagnosis. (mellaly.com)
Early diagnosis and intervention provide the best possible outcome for those with the syndrome. (mellaly.com)

The original classifications included velo-cardio-facial syndrome, Shprintzen syndrome, 22q11 deletion syndrome, Sedlackova syndrome and conotruncal anomaly face syndrome. (scienceblogs.com)

Dr Angelo DiGeorge was often invited to Italian scientific meetings, including the San Giovanni Rotondo Medical Genetic School and the Rome "Deletion 22q11" Meeting in 2002. (wikipedia.org)
It was there in Rome that Angelo DiGeorge and Bob Shprintzen, the fathers of the unique disorder, met for the first time, although they had long been working on the same syndrome, living close to one another in the United States. (wikipedia.org)
DiGeorge Syndrome is named after my father doctor Angelo DiGeorge who died three years ago. (scienceblogs.com)

Objective: DiGeorge syndrome (DGS) belongs to the complex immunodeficiency syndromes. (amedi.sk)
Conclusions: DiGeorge syndrome belongs to the relatively frequent immunodeficiency syndromes. (amedi.sk)
Neuromascular abnormality presenting with ataxia(ataxia-telangiectasia) , flaccid paralysis after live poliovirus immunization (combined or antibody deficiencies) ,pernicious anaemia (CVID), cognitive impairment, nystagmus and cerebellar, spinal and peripheral neuropathies(Chediac-Higashi syndrome), seizures, ataxia and occulomotor and reflex abnormalities(Griscelli syndrome) are examples of neurologic features seen in different immunodeficiency syndromes. (ac.ir)
The aim of this study is to review the neurological manifestations of different primary immunodeficiency syndromes. (ac.ir)

Cayler cardiofacial syndrome. (childrensdayton.org)

DiGeorge first gained international recognition in the mid-1960s for his ground breaking discovery of a disorder characterized by congenital absence of the thymus and associated abnormalities. (wikipedia.org)
They found that knockouts of specific transcription factors that were not previously linked to Digeorge were tied to distinctive combinations of facial muscle and cardiac defects resemble the congenital defects in babies. (scienceblogs.com)
Genetic basis of human congenital anomalies of the kidney and urinary tract. (columbianephrology.org)

In addition, two subjects showed duplications of the 22q11/DiGeorge syndrome region. (biomedcentral.com)

DiGeorge syndrome includes a pattern of more than 200 different defects, including hypoplastic thymus and parathyroid glands, conotruncal heart defects, and a characteristic facial appearance. (wikipedia.org)
Take, for instance, a common group of birth defects - forms of a disorder called DiGeorge syndrome. (scienceblogs.com)
More commonly known as 22q, the most common cause of DiGeorge syndrome, 22q11.2 deletion syndrome is a leading genetic cause of multiple birth defects and medical problems across the lifespan. (thepetitionsite.com)
For example, DiGeorge syndrome can cause heart defects. (aboutlawsuits.com)
DiGeorge syndrome is an autosomal dominant condition, and is the second most common genetic cause of heart defects and developmental delay, after Down syndrome. (bioreference.com)
Children with DiGeorge syndrome are born with several abnormalities, including heart defects, underdeveloped or absent parathyroid glands, an underdeveloped or absent thymus gland, and characteristic facial features. (msdmanuals.com)
Common causes include genetic defects (e.g. (amboss.com)
It is the second most common genetic disorder after Down syndrome, the most common cause of cleft lip and palate, and the second most common cause of developmental delays and heart defects - 1 in 68 children born with a cardiovascular abnormality are diagnosed with a 22q11.2 deletion. (medicover-genetics.com)
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. (krakow.pl)
Sequencing and other techniques may reveal the actual genetic defects in these patients. (medscape.com)

Furthermore, the other open source [programs] are better at identifying larger CNVs that are around 10 megabases, for example, he said, but are not as effective at calling smaller deletions involved in conditions such as DiGeorge syndrome, which are on the order of one to five megabases long. (genomeweb.com)
It is associated with chromosome 22 deletions and DiGeorge syndrome . (findmeacure.com)
In summary, our studies indicate that MLPA, with a focus on accepted medical genetic conditions, may be an inexpensive method for detection of microdeletions and microduplications in ASD patients for purposes of genetic counselling if MLPA-identified deletions are validated by additional methods. (biomedcentral.com)

Noninvasive prenatal testing (NIPT), also known as microdeletion tests, were first created to test for Down syndrome. (aboutlawsuits.com)
Doctors decide what to order and companies sell microdeletion testing as an option to add-on to the Down syndrome screening. (aboutlawsuits.com)
ClariTest Core offers the option to add screening for 22q11.2 microdeletion syndrome, also known as DiGeorge syndrome. (bioreference.com)
DiGeorge syndrome represents a part of the highly variable clinical spectrum of microdeletion 22q11.2. (medicover-genetics.com)

In some children, a particular genetic problem can be identified, such as DiGeorge syndrome, where a small piece of chromosome 22 is lost or deleted. (findmeacure.com)
This syndrome is caused by a missing piece of chromosome 22, and it affects multiple systems in the body. (mellaly.com)

Although no specific single genetic abnormality has yet been found to explain every case, genetics often do play a part in these types of malformations (known as conotruncal abnormalities). (findmeacure.com)

This case series reports 8 patients with Sanjad Sakati syndrome from 7 families in Jordan, 6 of whom had genetic testing. (who.int)
ABSTRACT We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. (who.int)

The software is designed to analyze whole-genome sequence data from samples of cell-free DNA (cfDNA) extracted from maternal blood plasma, one of the newer and less invasive forms of prenatal genetic testing that are becoming more commonly used to screen fetuses for heritable genetic diseases and identify abnormalities. (genomeweb.com)

DiGeorge joined the Department of Pediatrics of Temple University School of Medicine in 1952. (wikipedia.org)

The reason for this is that the symptoms of DiGeorge syndrome vary considerably. (scienceblogs.com)
The small deletion on the long arm (q) of chromosome 22 causes a syndrome with a diverse collection of symptoms. (medicover-genetics.com)
22q11.2 deletion syndrome has a prevalence of 1 in 2,000 -that is thought to be an underestimate due to the lack of syndrome familiarity and recognition by doctors, and the wide variability of symptoms. (medicover-genetics.com)
The symptoms of 22q11.2 Deletion Syndrome can be physical or behavioral. (mellaly.com)
Yes, medication can be used to manage symptoms of 22q11.2 Deletion Syndrome, including anxiety and hyperactivity. (mellaly.com)

Angelo Mario DiGeorge (April 15, 1921 - October 11, 2009) was an Italian American physician and pediatric endocrinologist from Philadelphia who pioneered the research on the autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome. (wikipedia.org)

DiGeorge syndrome is a random genetic mutation where a person is missing a portion of the 22nd chromosome, according to the Mayo clinic. (kplctv.com)
The disorder's name describes its location on the 22nd chromosome as well as the nature of the genetic mutation, which is associated with a variety of anatomical and intellectual deficits. (science20.com)
22q11.2 syndrome is caused by a genetic mutation change, more commonly now known as a genetic variant. (childrensdayton.org)
Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)

Mother and children with 22q11.2 deletion syndrome. (medscape.com)
But the researchers found that none of the children with 22q11.2 deletion syndrome "met strict diagnostic criteria" for autism. (science20.com)
A high prevalence of autism spectrum disorder has been reported in children with 22q11.2 deletion syndrome - as high as 50 percent based on parent-report measures. (science20.com)

I enjoy following the tremendous research being done all over the world in connection with DiGeorge Syndrome, which is by all accounts the most common chromosomal genetic deletion syndrome. (scienceblogs.com)
Nowadays, the American College of Obstetricians and Gynecologists (ACOG) recommends prenatal genetic screenings for "all pregnant patients regardless of maternal age or risk of chromosomal abnormality. (findlaw.com)
There is a also reported association with chromosomal and genetic aberration, in particular trisomy 21 (Downs syndrome). (hkog-info.com)
In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. (cdc.gov)

These genetic tests are not completely accurate - it misses some mutations and mistakes some healthy genes for abnormal ones. (theinterim.com)
what are the genes responsible for 22q11.2 deletion syndrome? (childrensdayton.org)
Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. (umich.edu)
The reason for this disruption can be traced to several genes in the region of chromosome 22, which is deleted in DiGeorge syndrome. (gyanns.com)

All these syndromes, because of their overlapping features, are now designated as a 22q11.2 deletion syndrome (22q11.2DS) and in the rest of the article will be referred to as 22q11.2DS. (medscape.com)
I am also pleased that you correctly refer to it as "DiGeorge Syndrome" rather than as 22 q 11 deletion syndrome or by one of its many other monikers. (scienceblogs.com)
In some cases, PI is due to a genetic disorder that involves other health problems, such as 22q11.2 deletion syndrome (also called DiGeorge syndrome) . (cdc.gov)
Join us in urging health care leaders to expand access to 22q11.2 deletion syndrome screening. (thepetitionsite.com)
Dear Drs. Zahn and Hicks, On behalf of all the concerned mothers and fathers who have signed below, we strongly urge the American College of Obstetricians and Gynecologists (ACOG) to update its guidelines to recommend 22q11.2 deletion syndrome screening for all pregnancies. (thepetitionsite.com)
Non-invasive prenatal screening for 22q11.2 deletion syndrome must be available for all. (thepetitionsite.com)
The children have a genetic disorder called 22q11.2 deletion syndrome and their prevalence of autism has been reported as high as 50 percent, using what is called 'gold-standard' diagnostic criteria. (science20.com)
Children diagnosed with 22q11.2 deletion syndrome - or 22q - may experience mild to severe cardiac anomalies, weakened immune systems and malformations of the head and neck and the roof of the mouth, or palate. (science20.com)
The clinical impression of the MIND Institute's 22q deletion syndrome team, which includes psychologists Ingrid Leckliter and Janice Enriquez, was that the children were experiencing significant social impairments, but their presentation diverged from that of children with autism. (science20.com)
22q11.2 deletion syndrome, also known commonly as DiGeorge syndrome, is a condition that varies greatly in severity among affected individuals (including family members). (childrensdayton.org)
how rare is 22q11.2 deletion syndrome? (childrensdayton.org)
are kids born with 22q11.2 deletion syndrome? (childrensdayton.org)
what is the life expectancy of someone with 22q11.2 deletion syndrome? (childrensdayton.org)
how do I know if my child will be born with 22q11.2 deletion syndrome? (childrensdayton.org)
After birth, if 22q11.2 deletion syndrome is suspected, tests such as CT, MRI, heart ultrasound and other testing may be ordered. (childrensdayton.org)
how do you treat 22q11.2 deletion syndrome? (childrensdayton.org)
22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome, is a genetic disorder that affects approximately 1 in 4,000 live births. (mellaly.com)
Early detection of 22q11.2 Deletion Syndrome is crucial for the best possible outcomes. (mellaly.com)
The greatest risk factor for 22q11.2 Deletion Syndrome is genetics. (mellaly.com)
Most intervention for 22q11.2 Deletion Syndrome is medical. (mellaly.com)
Early detection is crucial for a better outcome in patients with 22q11.2 Deletion Syndrome. (mellaly.com)
Early detection and intervention are crucial for patients with 22q11.2 Deletion Syndrome. (mellaly.com)
1. What's the life expectancy of patients affected by 22q11.2 Deletion Syndrome? (mellaly.com)
It is vital to understand that life expectancy in patients with 22q11.2 Deletion Syndrome varies considerably. (mellaly.com)
2. Can 22q11.2 Deletion Syndrome be treated with medication? (mellaly.com)
3. Can 22q11.2 Deletion Syndrome be detected during pregnancy? (mellaly.com)
2 Deletion Syndrome? (mellaly.com)
5. What can be done to prevent the risk of 22q11.2 Deletion Syndrome? (mellaly.com)
While it is not possible to prevent the risk of 22q11.2 Deletion Syndrome, genetic counseling and testing can help identify the risk for future children. (mellaly.com)
That's the case with DiGeorge syndrome, also called 22q11.2 deletion syndrome, a genetic disorder affecting about one in 3,000 babies. (gyanns.com)

Genetics and Genomic Medicine at St. Louis Children's Hospital provides support for you and your child when a genetic disorder is suspected - or, when you need to know more about a confirmed genetic disorder. (stlouischildrens.org)
Our experts have immediate access to three onsite genetics laboratories, allowing them to more quickly get genetic answers. (stlouischildrens.org)

22q11.2 is also the strongest known genetic risk factor for schizophrenia. (medicover-genetics.com)
LaMantia's research holds the potential for informing new treatment strategies where none currently exists for autism and schizophrenia associated with DiGeorge syndrome. (gyanns.com)
DiGeorge syndrome remains one of the common few genetic syndromes that is associated with a high risk for developing autism and schizophrenia later in life. (gyanns.com)

Each of us inherits hundreds of genetic mutations from our parents, as they did from their forebears. (dorak.info)
The genetic code is universal i.e. [39] In large populations of asexually reproducing organisms, for example, E. coli, multiple beneficial mutations may co-occur. (mercinewyork.com)

The genetic code is so well-structured for hydropathicity that a mathematical analysis (Singular Value Decomposition) of 12 variables (4 nucleotides x 3 positions) yields a remarkable correlation (C = 0.95) for predicting the hydropathicity of the encoded amino acid directly from the triplet nucleotide sequence, without translation. (mercinewyork.com)

We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. (who.int)

Prader-Willi and Angelman syndromes can cause seizures and inability to control food consumption and offer a child little chance of living independently as an adult. (aboutlawsuits.com)

The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. (cdc.gov)

Cytogenetic studies of a male child carrying the 22q11.2 deletion common in patients with velo-cardio-facial/DiGeorge syndrome showed an unexpected rearrangement of the 22q11.2 region in his normal appearing mother. (elsevierpure.com)

In Comèl‐Netherton syndrome, 8/9 described patients showed recurrent or persistent S. aureus skin infections once skin lesions had developed. (ferienwohnung-uelsen.de)

A prospective study of 6090 children from the prospective Avon Longitudinal Study of Parents and Children (ALSPAC) showed that less than adequate maternal weight gain during pregnancy and being born first were significantly associated with Tourette syndrome in the offspring by the age of 13 or 14 years. (medscape.com)
The primary outcome measures were diagnoses of Tourette syndrome and either Tourette syndrome or chronic tic disorder (grouped together as Tourette syndrome/chronic tic disorder) based on criteria from the Diagnostic and Statistical Manual of Mental Disorder, Fourth Edition, Text Revision (DSM-IV-TR) when the children were 13 or 14 years old, as well as tic-related information from maternal questionnaires. (medscape.com)

These included trisomy 13 (n = 5), trisomy 18 (n = 6), trisomy 21 (n = 31), Turner syndrome (n = 5), and Di-George Syndrome (n = 6), all of which were detected with prenatal MRI. (auntminnie.com)

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. (columbianephrology.org)
2017. APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts. . (umich.edu)

Accordingly, I urge all DiGeorge researchers, "DiGeorge families", and the entire medical community to respect and honor the remarkable man who first described the syndrome and who discovered the role of the thymus gland in human function by continuing to call it what it is, DiGeorge Syndrome. (scienceblogs.com)
However, due to the variable features of this syndrome, it is often underdiagnosed and researchers estimate it occurs more frequently. (childrensdayton.org)

While NIPTs perform well at predicting relatively common conditions such as Down syndrome, the waters get murkier with predicting rarer conditions-such as DiGeorge syndrome , which affects one in every 4,000 births, and Prader-Willi syndrome , which affects one in 20,000. (findlaw.com)

In this session, fetal MRI's role in detecting genetic syndromes will be explored, including how atypical temporal lobe asymmetry could be a soft marker for an underlying genetic condition. (auntminnie.com)

Around one in 4000 is born with this syndrome, which arises from a deletion of a short segment of chromosome 22. (scienceblogs.com)

A 13-year-old boy with Lennox-Gastaut syndrome characterized by absence, myoclonic, complex-partial, and secondarily generalized tonic-clonic seizures, presents with progressive obtundation and loss of motor and verbal skills over a 2-day period. (researchgate.net)

Prenatal Genetic Tests: How Have They Escaped FDA-Regulation and What Options Do Potential Litigants Have? (findlaw.com)

In 2012, a jury in Oregon awarded nearly $3 million under a wrongful birth theory to a couple whose child was born with Down syndrome after a prenatal test failed to detect the condition. (findlaw.com)
A billion-dollar industry built on pregnancy blood tests designed to detect rare genetic conditions may only provide accurate results about 10% of the time, according to an alarming investigative report released this week. (aboutlawsuits.com)

PI often has an underlying genetic cause and can run in families. (cdc.gov)

22q is more common than some other genetic conditions like cystic fibrosis (CF) and spinal muscular atrophy (SMA) which are already recommended by ACOG for universal screening. (thepetitionsite.com)

As part of DiGeorge syndrome, Isaac has low calcium, a weakened immune system and autism. (kplctv.com)
Twin studies show a concordance rate of 60%-90% for monozygotic twins and 0-10% for dizygotic twins, and the genetic liability for autism is estimated to be more than 90% [ 3 ]. (biomedcentral.com)

The idea is that the detection of an abnormality as early as 10 weeks into a pregnancy can help parents decide whether to terminate the pregnancy or start preparing to raise a child with a certain genetic condition. (findlaw.com)
Correctly identifying a genetic abnormality can provide parents time to learn and prepare for challenges. (aboutlawsuits.com)
Incorrectly identifying a genetic abnormality can lead parents to terminate a pregnancy early. (aboutlawsuits.com)

Anatomy6

Diseases12

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes6

Velocardiofacial10

VCFS1

Disorders15

Diagnosis8

Velo-cardio-f1

Angelo DiGeorge3

Immunodeficiency syndromes4

Cayler1

Congenital3

22q111

Defects10

Deletions3

Microdeletion4

Piece of chromosome 222

Conotruncal1

Patients with Sanjad Sakati syndrome2

Abnormalities1

Department of Pediatrics1

Symptoms5

Autosomal dominant1

Mutation4

Children with 22q11.2 deletion3

Chromosomal4

Genes4

Deletion syndrome30

Genetics2

Schizophrenia3

Mutations2

Sequence1

Underwent1

Angelman1

Chromosomes1

22q11.2 deletion1

Persistent1

Maternal2

Turner1

Nephrotic syndrome2

Researchers2

4,0001

Fetal1

40001

Seizures1

Prenatal genetic1

Detect2

Underlying genetic cause1

Cystic fibrosis1

Autism2

Abnormality3