Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TLDR
The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.Abstract:
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.read more
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22q11.2 deletion syndrome
Donna M. McDonald-McGinn,Kathleen E. Sullivan,Bruno Marino,Nicole Philip,Ann Swillen,Jacob A. S. Vorstman,Elaine H. Zackai,Beverly S. Emanuel,Joris Vermeesch,Bernice E. Morrow,Peter J. Scambler,Anne S. Bassett +11 more
TL;DR: The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease as mentioned in this paper.
Journal Article
The 22q11.2 deletion syndrome.
TL;DR: 22q11.2 deletion syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome.
Journal ArticleDOI
High Rates of Schizophrenia in Adults With Velo-Cardio-Facial Syndrome
TL;DR: The high prevalence of schizophrenia in this group suggests that chromosome 22q11 might harbor a gene or genes relevant to the etiology of schizophrenic disease in the wider population.
Journal ArticleDOI
TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
Sandra Merscher,Birgit Funke,Jonathan A. Epstein,Joerg Heyer,Anne Puech,Min Min Lu,Ramnik J. Xavier,Marie B. Demay,Robert G. Russell,Stephen M. Factor,Kazuhito Tokooya,Bruno St. Jore,Melissa Lopez,Raj K. Pandita,Marie Lia,Danaise V. Carrion,Hui Xu,Hubert Schorle,James B. Kobler,Peter J. Scambler,Anthony Wynshaw-Boris,Arthur I. Skoultchi,Bernice E. Morrow,Raju Kucherlapati +23 more
TL;DR: A major role is suggested for this gene in the molecular etiology of VCFS/DGS using a cre-loxP strategy to generate mice that are hemizygous for a 1.5-3.0 Mb deletion corresponding to that on 22q11.
Journal ArticleDOI
Genetic Basis for Congenital Heart Defects: Current Knowledge A Scientific Statement From the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
Mary Ella M Pierpont,Craig T. Basson,D. Woodrow Benson,Bruce D. Gelb,Therese M. Giglia,Elizabeth Goldmuntz,Glenn McGee,Craig Sable,Deepak Srivastava,Catherine L. Webb +9 more
TL;DR: It is anticipated that this summary will update a wide range of medical personnel about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenitals heart disease.
References
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Journal ArticleDOI
DiGeorge syndrome: part of CATCH 22.
TL;DR: It is proposed that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.
Journal ArticleDOI
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives
Ann E. Pulver,Gerald Nestadt,Rosalie Goldberg,Robert J. Shprintzen,Malgorzata Lamacz,Paula S. Wolyniec,Bernice E. Morrow,Maria Karayiorgou,Stylianos E. Antonarakis,David E. Housman,Raju Kucherlapati +10 more
Journal ArticleDOI
Velo‐cardio‐facial syndrome: A review of 120 patients
Rosalie Goldberg,Beth Motzkin,Robert W. Marion,Robert W. Marion,Peter J. Scambler,Robert J. Shprintzen +5 more
TL;DR: The full spectrum of VCFS is described, including several new manifestations, to compare the VCFS phenotype with published cases of "familial DiGeorge sequence" which are now thought to represent examples ofVCFS.
Journal ArticleDOI
Late-onset psychosis in the velo-cardio-facial syndrome.
Journal ArticleDOI
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise
TL;DR: The dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome are reported to indicate a relatively low incidence of clefting, good response to pharyngoplasty, considerable variability of the syndrome.