Clinical and molecular study of DiGeorge sequence

Levy‐Mozziconacci, Annie; Wernert, François; Scambler, Peter; Rouault, Fabien; Métras, D; Kreitman, B.; Depétris, D.; Mattéi, M. G.; Philip, Nicole

doi:10.1007/bf01972889

Cited by 29 publications

(6 citation statements)

References 27 publications

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“…DGA (in our study) and Opitz GBBB syndrome (McDonald-McGinn et al 1995) associated with CAF had the deletion of the 22q11.2 region Many of these defects are also seen in the Opitz GBBB (Opitz et al 1969a, b;McDonald-McGinn et al 1995) syndrome. This overlap of phenotype between previously distinct syndromes (Levy-Mozziconacci et al 1994;Nickel et al 1994;Burn et al 1995;Cormier-Daire et al 1995;Karayiorgou et al 1995) may reflect the result of haploinsufficiency of multiple genes located in 22q11.2. Therefore, we propose naming the four syndromes with a deletion of the 22q11.2 region, i.e., CAFS, VCFS, DGA, and Opitz GBBB, del22q11.2 syndrome (Fig.…”

Section: Discussionmentioning

confidence: 91%

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

Matsuoka¹,

Kimura²,

Scambler

et al. 1998

Human Genetics

112

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To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by fluorescence in situ hybridization (FISH) using the N25(D22S75) DiGeorge critical region (DGCR) probe. No hemizygosity was found in three (2%) of the patients with CAFS by FISH using nine DiGeorge critical region probes and a SD1OP1 probe (DGA II locus). None of these three patients had mental retardation and just one had nasal intonation, which was observed in almost all of the 180 CAFS patients who carried deletions (mental retardation, 92%; nasal voice, 88%). Nineteen of 143 families (13%) had familial CAFS and 16 affected parents (84%) were mothers. Although only two of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. It indicates that extragenic factors may play a role in the genesis of phenotypic variability, especially in patients with cardiovascular anomalies. No familial cases were found among CAFS patients with absent thymus/DiGeorge anomaly (DGA). Also, in all 18 CAFS patients with completely absent thymus/DGA and all 6 CAFS patients with schizophrenia, it was revealed that the deletion was longer distally. A study of the origin of the deletion using microsatellite analyses in 48 de novo patients showed that in 65% of CAFS patients it was maternal, while in 64% of DGA patients it was paternal. The findings of this study indicated that CAF was almost always associated with the deletion of 22ql1.2. As well as the major features of the syndrome, other notable extracardiac anomalies were found to be susceptibility to infection, schizophrenia, atrophy or dysmorphism of the brain, thrombocytopenia, short stature, facial palsy, anal atresia, and mild limb abnormalities.

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Section: Discussionmentioning

confidence: 91%

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

Matsuoka¹,

Kimura²,

Scambler

et al. 1998

Human Genetics

112

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“…Since fluorescent in situ hybridization (FISH) was first used to detect 22q11.2 deletion [4], many large studies have been conducted investigating the associated cardiovascular anomalies in pediatric or adult patients [5-9]. Because of the strong correlation of 22q11.2 deletion with cardiac defects, many obstetricians recommend routine genetic screening for 22q11.2 deletion by FISH when heart defects are diagnosed on prenatal ultrasound.…”

Section: Introductionmentioning

confidence: 99%

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

et al. 2014

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ObjectiveTo analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally.MethodsThis retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea.ResultsMain cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava.ConclusionA variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.

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“…Neurodevelopmental disability has been identified in a proportion of these children. [1][2][3][4][5] Neurological sequelae are also well recognised following cardiac surgery, especially with major defects such as arch anomalies, prolonged cardiopulmonary bypass time, and after periods of low perfusion pressure. 6 7 Early reports of DGS in the cardiovascular literature either did not comment on neurological outcome 8 or simply indicated that neurodevelopmental sequelae are common.…”

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confidence: 99%

A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery

Maharasingam

Östman‐Smith²,

Pike³

2003

Archives of Disease in Childhood

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Clinical and molecular study of DiGeorge sequence

Cited by 29 publications

References 27 publications

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery

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