Prominent publications by Robert J Shprintzen

KOL Index score: 11004

Velo-cardio-facial syndrome (VCFS) is a common genetic disorder among individuals with cleft palate and is associated with hemizygous deletions in human chromosome 22q11. Toward the molecular definition of the deletions, we constructed a physical map of 22q11 in the form of overlapping YACs. The physical map covers > 9 cM of genetic distance, estimated to span 5 Mb of DNA, and contains a total of 64 markers. Eleven highly polymorphic short tandem-repeat polymorphic (STRP) markers were ...

Known for 22q11 Deletions |  Molecular Definition |  Vcfs Patients |  Yeast Chromosomes |  Digeorge Syndrome
KOL Index score: 10211

Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions for a part of 22q11, suggesting that haploinsufficiency in this region is responsible for its etiology. Because most cases of VCFS are sporadic, portions of 22q11 may be prone to rearrangement. To understand the molecular basis for chromosomal deletions, we defined the extent of the deletion, ...

Known for 22q11 Deletions |  Vcfs Patients |  Facial Syndrome |  Chromosome Deletion |  Pair Human
KOL Index score: 10199

The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11. VCFS/DGS is the most common syndrome associated with 22q11 rearrangements. In order to determine whether there are particular ...

Known for Chromosome 22q11 |  Vcfs Dgs |  Pair Human |  Common Syndrome |  Molecular Basis
KOL Index score: 9984

Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocognitive, and psychiatric phenotype. Increasing interest has centered on identifying the candidate genes within the deleted region that may contribute to this phenotype. One attractive candidate gene is catechol-O-methyltransferase (COMT) because ...

Known for Comt Polymorphism |  Velo‐cardio‐facial Syndrome |  Gender Interaction |  Psychiatric Phenotype |  Deleted Region
KOL Index score: 9641

BACKGROUND: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural ...

Known for Unaffected Siblings |  Deletion Syndrome |  Wm Microstructure |  White Matter |  Psychiatric Disorders
KOL Index score: 9405

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlacková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable ...

Known for Facial Syndrome |  Situ Hybridization |  30 Years |  Human Pair |  Velo Cardio
KOL Index score: 9152

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, conotruncal heart defects and facial dysmorphology among others. Eighty to eighty-five percent of VCFS/DGS patients are hemizygous for a portion of chromosome 22. It is likely that the genes encoded by this region play a role in the etiology of the phenotypes associated with the disorders. Using a cDNA selection ...

Known for Clathrin Heavy |  Chain Gene |  Facial Syndrome |  Situ Hybridization |  Congenital Humans
KOL Index score: 9076

At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with autism and those with idiopathic autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of autism in samples of children with either (VCFS) or idiopathic autism. Five groups of children ages 5-15 were included in the ...

Known for Idiopathic Autism |  Velocardiofacial Syndrome |  Groups Children |  Disorders Phenotype |  Autistic Disorder
KOL Index score: 8956

BACKGROUND: Velocardiofacial syndrome (VCFS) is one of the most common multiple anomaly syndromes in humans. Pharyngeal hypotonia, one of the most common findings in VCFS, contributes to hypernasal speech, which occurs in approximately 75% of individuals with VCFS.

OBJECTIVE: To evaluate the thickness and histologic and histochemical properties of the superior pharyngeal constrictor (SPC) muscle in patients with VCFS to determine whether a muscle abnormality exists that might contribute ...

Known for Velocardiofacial Syndrome |  Patients Vcfs |  Spc Muscle |  Age Range |  Hypernasal Speech
KOL Index score: 8946

The velo-cardio-facial syndrome (VCFS) and DiGeorge sequence (DGS) have many similar phenotypic characteristics, suggesting that in some cases they share a common cause. DGS is known to be associated with monosomy for a region of chromosome 22q11, and DNA probes have been shown to detect these deletions even in patients with apparently normal chromosomes. Twelve patients with VCFS were examined and monosomy for a region of 22q11 was found in all patients. The DNA probes used in this ...

Known for Velo‐cardio‐facial Syndrome |  Chromosome 22q11 |  Patients Vcfs |  Human Pair |  Situ Hybridization
KOL Index score: 8939

OBJECTIVE: To examine prevalence rates of psychopathology in children with velocardiofacial syndrome (VCFS).

METHOD: One hundred fifty-four children ages 6 to 15 participated in our between-group design with three samples, 84 children with VCFS (37 girls, 47 boys), 32 sibling controls (18 girls, 14 boys), and 38 community controls (12 girls, 26 boys). The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version and several other parent ...

Known for Velocardiofacial Syndrome |  Depressive Disorder |  Children Vcfs |  Prevalence Rates |  Attention Deficit
KOL Index score: 8622

OBJECTIVE: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common ...

Known for Cleft Palate |  Congenital Heart Disease |  Human Pair |  Velocardiofacial Syndrome |  Retrospective Studies
KOL Index score: 8479

Velo-cardio-facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T-cell deficiency suggesting that these 2 conditions share a common pathogenesis. Here, we report the results of cytogenetic and molecular studies of 15 VCFS patients. ...

Known for Velo‐cardio‐facial Syndrome |  Vcfs Patients |  Cleft Palate |  Learning Disabilities |  Female Heart Defects


Robert J Shprintzen: Influence Statistics

Sample of concepts for which Robert J Shprintzen is among the top experts in the world.
Concept World rank
velopharyngeal closure speech #1
otitis prone child #1
pharyngeal anomalies #1
störungen motorische #1
vcfs speech disorders #1
tone examination #1
term syndromic diagnoses #1
relative merits procedures #1
sexmediated #1
multiview fluoroscopy #1
patients speech examiner #1
preschool cineradiography #1
mild receptive delays #1
disturbed speech production #1
fluoroscopy humans tonsillectomy #1
speech disorders hypoplasia #1
variable phenotypes heart #1
basicranium upper airway #1
presence motor abnormalities #1
hypernasal speech #1
differing patterns closure #1
executed question #1
deleted genes genes #1
small vermis #1
hypoplasia adenoids #1
vcfs asymmetric parameters #1
investigation velopharyngeal closure #1
autism vcfs autism #1
patients hypernasal #1
substantial segments population #1
craniofacial anomalies emphasis #1
müller maneuver fnmm #1
insuficiencia velofaringea #1
vcfs idiopathic autism #1
hypernasal speech individuals #1
val male9 #1
studies vcfs #1
type speech abnormality #1
mechanism velopharyngeal valving #1
velopharyngeal insufficiency neurofibromatosis #1
predictive therapeutic report #1
mechanism normal subjects #1
hypernasal speech tonsillectomy #1

Key People For Velocardiofacial Syndrome

Top KOLs in the world
Robert J Shprintzen
velocardiofacial syndrome cleft palate velopharyngeal insufficiency
Rosalie B Goldberg
cleft palate velocardiofacial syndrome ocular findings
Elaine H Zackai
human pair deletion syndrome situ hybridization
Beverly S Emanuel
human pair situ hybridization deletion syndrome
Peter James Scambler
digeorge syndrome cystic fibrosis human pair
Donna M McDonald‐McGinn
deletion syndrome human pair situ hybridization

Robert J Shprintzen:Expert Impact

Concepts for whichRobert J Shprintzenhas direct influence:Velocardiofacial syndrome,  Cleft palate,  Velo‐cardio‐facial syndrome,  Velopharyngeal insufficiency,  Facial syndrome,  Bifid uvula,  Learning disabilities,  Craniofacial morphology.

Robert J Shprintzen:KOL impact

Concepts related to the work of other authors for whichfor which Robert J Shprintzen has influence:Cleft palate,  Velocardiofacial syndrome,  Velopharyngeal insufficiency,  Human pair,  Bipolar disorder,  Situ hybridization,  Robin sequence.



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Inc. The Virtual Center for Velo‐Cardio‐Facial Syndrome Manlius New York | The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius | The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius, NY 13104, USA | The Virtual Center for VeloCardio-Fa

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