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isolated congenital heart diseases and digeorge syndrome

Xiangyu Zhu, Jie Li, Tong Ru, Yaping Wang, Yan Xu, Ying Yang, Xing Wu, David S Cram, Yali Hu
OBJECTIVE: To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD: Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq)...
April 2016: Prenatal Diagnosis
Anitha S John, Donna M McDonald-McGinn, Elaine H Zackai, Elizabeth Goldmuntz
The 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies. This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic root dilation...
May 2009: American Journal of Medical Genetics. Part A
Li-Feng Zhang, Yong-Hao Gui, Tao Zhong, Yue-Xiang Wang, Lin-Xi Qian, Yong-Xin Dong, Qiu Jiang, Shu-Na Sun, Hou-Yan Song
OBJECTIVE: DiGeorge/del22q11 syndrome is one of the most common genetic causes of outflow tract and aortic arch defects in human. DiGeorge/del22q11 is thought to involve an embryonic defect restricted to the pharyngeal arches and the corresponding pharyngeal pouches. Previous studies have evidenced that retinoic acid (RA) signaling is definitely indispensable for the development of the pharyngeal arches. Tbx1, one of the T-box containing genes, is proved to be the most attractive candidate gene for DiGeorge/del22q11 syndrome...
April 2007: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Joanna Kwiatkowska, Jolanta Wierzba, Janina Aleszewicz-Baranowska, Jan Ereciński
INTRODUCTION: The latest achievements in molecular diagnosis create new possibilities for evaluation of congenital abnormalities. AIM: To present our preliminary experience with genetic diagnosis of congenital combined conotruncal heart defects. METHODS: The analysis comprised 35 families with more than one member suffering from conotruncal heart defects (Group I) and 10 families (Group II) having a child with the clinical features of CATCH 22 syndrome...
January 2007: Kardiologia Polska
Elizabeth Goldmuntz
Most patients with the clinical features of DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes share a common genetic cause, namely, a deletion of chromosome 22q11, and define the most common deletion syndrome known at this time. The clinical features of the 22q11 deletion syndrome are highly variable between individuals; some have subtle findings, whereas others are severely affected. The most common clinical features include specific types of congenital heart disease, hypocalcemia, immunodeficiency, facial dysmorphia, palate anomalies, velopharyngeal dysfunction, renal anomalies, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders...
December 2005: Clinics in Perinatology
Lihong Jiang, Changqing Duan, Baowen Chen, Zongliu Hou, Zhiyi Chen, Yaxiong Li, Youming Huan, Kenneth K Wu
BACKGROUND: Congenital heart disease (CHD) is the most common type of heart disease among children. About 75% of DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS) includes CHD. A deletion within chromosome 22q11.2 has been identified in the majority of patients with DGS and VCFS. And 22q11.2 deletion has become one of the markers used to study CHD in these syndromes. Whether 22q11.2 deletion is associated with isolated CHD is not known and was the topic of this study. METHODS AND RESULTS: We studied the 22q11...
November 2, 2005: International Journal of Cardiology
S Borgmann, I Luhmer, M Arslan-Kirchner, H C Kallfelz, J Schmidtke
Microdeletions in chromosome 22q11.2 are associated with DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and several other syndromes, collectively referred to as DG/VCF. Non-dysmorphic patients with cardiac defects have also been attributed to deletions in this chromosomal region. In this study 157 consecutively catheterized patients with isolated, non-syndromic cardiac defects, and 25 patients with cardiac defects and additional stigmata (10 of whom were clinically diagnosed as DG/VCF cases prior to chromosome analysis) were analysed by fluorescence in situ hybridization with the DGS-specific probe D0832...
December 1999: European Journal of Pediatrics
P Werner, M G Raducha, U Prociuk, M Budarf, P S Henthorn, D F Patterson
Conotruncal defects (CTDs) of the heart are a frequent component of DiGeorge, velocardiofacial, or other syndromes caused by deletions of the human chromosome 22q11 region (HSA22q11). In addition, some human patients with isolated nonsyndromic CTDs have been reported to have deletions of this region. Taken together, these findings lead to the conclusion that deletions of an HSA22q11 locus or loci produce abnormalities in cardiac development leading to CTDs. A spontaneous model of isolated inherited conotruncal malformations occurs in the keeshond dog...
July 1999: Journal of Heredity
K Momma, R Matsuoka, A Takao
Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. Associated congenital heart diseases include tetralogy of Fallot, truncus arteriosus, and ventricular septal defect. Associated anomalies of the aortic arch, aortic branches, ductus arteriosus, and pulmonary arteries are more frequent in patients with the deletion than in those without the deletion. Associated anomalies include right aortic arch, cervical aorta, aberrant origin or isolation of the subclavian artery, the absence of the ductus arteriosus, major aortopulmonary collateral arteries, isolation of the left pulmonary artery, and vascular ring formed by the right aortic arch, retroesophageal aortic arch, and left descending aorta...
March 1999: Pediatric Cardiology
B Funke, A Puech, B Saint-Jore, R Pandita, A Skoultchi, B Morrow
Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome are congenital disorders characterized by craniofacial anomalies, conotruncal heart defects, immune deficiencies, and learning disabilities. Both diseases are associated with similar hemizygous 22q11 deletions, indicating that haploinsufficiency of a gene(s) in 22q11 is responsible for their etiology. We describe here a new gene called NLVCF, which maps to the critical region for VCFS on 22q11 between the genes HIRA and UFD1L. NLVCF encodes a putative protein of 206 amino acids...
October 15, 1998: Genomics
Y Mehraein, C F Wippermann, I Michel-Behnke, T K Nhan Ngo, U Hillig, M Giersberg, U Aulepp, H Barth, B Fritz, H Rehder
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA probe and for associated CATCH features...
April 1997: Human Genetics
S F Huang, M H Wu
A female infant, born at 33 weeks' gestation with tetralogy of Fallot, died of severe perinatal asphyxia 6 hours after birth. Necropsy disclosed two associated vascular anomalies: a right aortic arch with a left common carotid artery arising from the pulmonary artery (isolated left common carotid artery) and an aberrant left subclavian artery arising from the descending aorta. Agenesis of the thymus and parathyroid gland was also found, suggesting that the child also had DiGeorge syndrome. Origin of the left common carotid artery from the pulmonary artery is exceedingly rare...
July 1996: Heart: Official Journal of the British Cardiac Society
S Gerboni, G Sabatino, R Mingarelli, B Dallapiccola
Five members in three generations of a family were affected by a congenital heart disease. Four of them had mild or severe coarctation of the aorta (CoA), either isolated or in association with other cardiac defects. Fetal echocardiography allowed prenatal diagnosis in one pregnancy at risk. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with high penetrance and variable expressivity rather than polygenic inheritance.
April 1993: Journal of Medical Genetics
S Halford, R Wadey, C Roberts, S C Daw, J A Whiting, H O'Donnell, I Dunham, D Bentley, E Lindsay, A Baldini
A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine embryogenesis. The gene, named TUPLE1, and its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found in the beta-transducin/enhancer of split (TLE) family...
December 1993: Human Molecular Genetics
R Wadey, S Daw, C Taylor, U Atif, S Kamath, S Halford, H O'Donnell, D Wilson, J Goodship, J Burn
Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. It is not known how many genes contribute to this phenotype. Previous studies have shown that a balanced translocation disrupts sequences within the shortest region of deletion overlap for DiGeorge syndrome. A P1 clone was isolated which spans this breakpoint and used to isolate a cDNA encoding a transmembrane protein expressed in a wide variety of tissues...
June 1995: Human Molecular Genetics
S Demczuk, A Lévy, M Aubry, M F Croquette, N Philip, M Prieur, U Sauer, P Bouvagnet, G A Rouleau, G Thomas
We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0...
July 1995: Human Genetics
M Voisin, B Doan, S Elboury, P Messner, P A Chaptal, R Grolleau, J Astruc, R Jean
The purpose of our study was to determine the incidence and type of malformations associated with tetralogy of Fallot (TF). Among 133 patients followed up for 12 years, 30 who had either complete TF (n = 26) or pulmonary atresia and interventricular septal defect (n = 4) presented with another, extracardiac malformation. These malformations were part of a malformative syndrome in 21/30 patients, including 4 trisomies 21, 6 embryofoetopathies unquestionably (antiepileptics n = 2, alcohol n = 1) or possibly (hormonal treatment n = 1) of environmental origin, 6 branchial arch pathologies and 5 miscellaneous syndromes...
May 1989: Archives des Maladies du Coeur et des Vaisseaux
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