Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

Fryburg, Julie S.; Lin, Kant Y.; Golden, Wendy L.

doi:10.1002/(sici)1096-8628(19960329)62:3<274::aid-ajmg13>3.0.co;2-h

Cited by 41 publications

(17 citation statements)

References 6 publications

(1 reference statement)

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“…DiGeorge syndrome, 1,2 velocardiofacial syndrome (VCFS), 3 and conotruncal anomaly face syndromes, 4 and some patients with autosomal dominant Opitz G/BBB syndrome, 5,6 isolated conotruncal cardiac anomalies, 7 and Cayler cardiofacial syndrome 8 have been associated with the 22q11.2 deletion. The pattern of physical findings associated with the 22q11.2 deletion varies from patient to patient 9 and includes a conotruncal cardiac defect, palatal anomalies such as an overt cleft palate or velopharyngeal incompetence, thymic aplasia, or hypoplasia, T-cell abnormalities, and minor facial anomalies.…”

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confidence: 93%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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Purpose: The purpose of this study is to review the neurodevelopmental outcome of infants and preschoolers with a 22q11.2 microdeletion and to discuss the our clinical observations of clinical implications for educational and therapeutic interventions. Methods: One hundred twelve children (4 to 70 mos) with the 22q11.2 deletion were assessed using standardized tests (Bayley Scales of Infant Development-II, Preschool Language Scales, WechslerPreschool and Primary Scales of Intelligence-Revised). Results: Fifty-four percent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language development. Delays are not explained by cardiac defects or palatal defects. Conclusion: Developmental delays, mild hypotonia, language and speech delays, and feeding disorders are common, and this finding indicates the need for early intervention services beginning in infancy for children with the 22q11.2 deletion. Genetics in Medicine, 2001:3(1):40 -44.

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confidence: 93%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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“…Although this may seem to be a trivial point, it is not at all. For example, Opitz syndrome (also known as B/GGG syndrome) was reported erroneously to be caused by the same deletion of chromosome 22 as VCFS [McDonald-McGinn et al, 1995;Fryburg et al, 1996]. The distinction between the two syndromes is important because the diagnostic and treatment implications are significant.…”

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confidence: 99%

Velo‐cardio‐facial syndrome: 30 Years of study

Shprintzen

2008

Dev Disabil Res Revs

411

403

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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 Sedlačková 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 attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velocardio-facial syndrome do not develop psychosis, the risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than the general population. Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong.

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“…[1][2][3][4][5][6][7][8][9] In addition, deletion studies are now being performed routinely in the face of solitary findings such as velopharyngeal incompetence, cardiac anomalies, immunodeficiency, hypocalcemia, and learning disabilities or mental retardation. 10 -17 The 22q11.2 deletion is quite possibly one of the most common chromosomal disorders in humans.…”

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confidence: 99%

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

McDonald‐McGinn

Tonnesen

Laufer-Cahana

et al. 2001

Genetics in Medicine

276

229

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Purpose: The chromosome 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome and in some patients with the autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome. In addition, 22q11.2 deletion studies are becoming part of a standardized diagnostic workup for some isolated defects such as conotruncal cardiac anomalies and velopharyngeal incompetence. However, there is little information available on the clinical findings of unselected patients. For example, those individuals identified during prenatal diagnosis, as part of a generalized screening protocol, or following the diagnosis in a relative. This information will be invaluable in defining the variability of the disorder and in observing long-term outcome in the absence of targeted remediations. This study allows one to examine the first unselected cohort of patients and serves to highlight the importance of deletion testing in parents of affected probands. Methods: Thirty individuals with a 22q11.2 deletion were identified following the diagnosis in a relative. Nineteen were adults ascertained only following the diagnosis in their child, 10 were children identified following the diagnosis in their sibling, and one was a child diagnosed prenatally following the diagnosis in her parent. Results:Sixty percent of patients had no visceral anomalies. In fact, only 6 of the 19 adults (32%) and 6 of the 11 children (55%) had major findings which would have brought them to medical attention. Deletion sizing demonstrated the same large 3-4MB deletion in most families despite wide inter and intrafamilial variability and there was no difference in clinical findings based on the parent of origin. Thus, no genotype-phenotype correlations could be made. Conclusion: We report the first unselected cohort of patients with the 22q11.2 deletion identified through an affected relative. Analysis of this series of 30 patients, many with very mild manifestations of the deletion, allows one to examine the outcome in individuals who lacked specific remediations for this disorder. It emphasizes the importance of broadening the index of suspicion in order to provide appropriate recurrence risk counseling, cognitive remediation, and medical management.Further, it underscores the lack of familial concordance and the current lack of genotype-phenotype correlations in this disorder, and it raises the possibility that the deletion is more common than previously reported. Genetics in Medicine, 2001:3(1):23-29.

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Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

Cited by 41 publications

References 6 publications

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Velo‐cardio‐facial syndrome: 30 Years of study

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

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