scholarly journals Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11

1999 ◽  
Vol 65 (1) ◽  
pp. 247-249 ◽  
Author(s):  
Roy Wadey ◽  
Judith McKie ◽  
Charalambos Papapetrou ◽  
Helen Sutherland ◽  
Frans Lohman ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Velocardiofacial Syndrome ◽  
Chromosome 22Q11

Chromosome 22q11 Deletion Complicated by Dissecting Pulmonary Arterial Aneurysm and Jejunal Atresia in an Infant

2000 ◽  
Vol 124 (6) ◽  
pp. 880-882
Author(s):  
Shoji Yamanaka ◽  
Yukichi Tanaka ◽  
Motoyoshi Kawataki ◽  
Rieko Ijiri ◽  
Kiyoshi Imaizumi ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Male Infant ◽  
Velocardiofacial Syndrome ◽  
Arterial Aneurysm ◽  
22Q11 Deletion ◽  
Jejunal Atresia ◽  
Chromosome 22Q11 ◽  
Apple Peel ◽  
Pulmonary Arterial ◽  
Arterial Aneurysms

Abstract We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

scholarly journals Síndrome de deleção 22q11.2 e cardiopatias congênitas

2011 ◽  
Vol 29 (2) ◽  
pp. 251-260 ◽  
Author(s):  
Rafael Fabiano M. Rosa ◽  
Paulo Ricardo G. Zen ◽  
Carla Graziadio ◽  
Giorgio Adriano Paskulin
Keyword(s):  
Congenital Heart Defects ◽  
Digeorge Syndrome ◽  
Congenital Heart ◽  
Vascular Malformations ◽  
Heart Defects ◽  
Velocardiofacial Syndrome ◽  
Cardio Vascular

OBJETIVO: Revisar as características clínicas, etiológicas e diagnósticas da síndrome de deleção 22q11 e sua associação com as cardiopatias congênitas. FONTES DOS DADOS: Foram pesquisados artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se descritores específicos como "22q11", "DiGeorge syndrome", "velocardiofacial syndrome", "congenital heart defects" e "cardio-vascular malformations". O período adotado para a revisão foi de 1980 a 2009. SÍNTESE DOS DADOS: As malformações cardíacas são os defeitos congênitos observados mais frequentemente ao nascimento e representam um problema importante de Saúde Pública. Dentre suas principais causas conhecidas destaca-se a síndrome de deleção 22q11, também chamada de síndrome de DiGeorge, síndrome velocardiofacial e CATCH22. Trata-se de uma doença autossômica domi-nante caracterizada por um fenótipo altamente variável, o que dificulta em muito seu reconhecimento clínico. Além disso, a maior parte dos pacientes apresenta uma microdeleção identificada principalmente por técnicas de citogenética molecular, como a hibridização in situ fluorescente, pouco disponíveis em nosso meio. De forma similar a outras síndromes, a síndrome de deleção 22q11 associa-se a certos defeitos cardíacos específicos, no caso os do tipo conotruncal. Apesar disso, não há ainda na literatura um consenso sobre quais os pacientes com car-diopatia congênita que deveriam ser investigados para a síndrome de deleção 22q11. CONCLUSÕES: Cardiologistas e cirurgiões cardíacos, espe-cialmente pediátricos, devem estar cientes das peculiaridades e dos cuidados dispensados à síndrome de deleção 22q11. Os indivíduos com a síndrome apresentam comumente alterações envolvendo vários sistemas, o que pode levar a dificuldades e a complicações durante seu manejo clínico e cirúrgico.

Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome

2021 ◽  
pp. 1-6
Author(s):  
Tzu-Yi Lin ◽  
T’sang-T’ang Hsieh ◽  
Po-Jen Cheng ◽  
Tai-Ho Hung ◽  
Kok-Seong Chan ◽  
...  
Keyword(s):  
High Risk ◽  
Digeorge Syndrome ◽  
Prenatal Testing ◽  
Cardiac Anomaly ◽  
Comparative Genomic ◽  
Noninvasive Prenatal Testing ◽  
Maternal Fetal Medicine ◽  
Chromosome 22Q11 ◽  
Predictive Rate

<b><i>Objective:</i></b> DiGeorge syndrome (DGS) is associated with microdeletions of chromosome 22q11. It is the second most common cause of congenital heart disease and is an important consideration whenever a conotruncal cardiac anomaly is identified. The availability of noninvasive prenatal testing (NIPT) is altering the practice of prenatal genetics and maternal-fetal medicine, resulting in a decline in invasive testing. Antenatal ultrasound and other biomarkers have their own limitation. NIPT was proposed to screen DGS with cell-free DNA in Taiwan. Here, we present our experience of prenatal diagnosis of DGS in our center. <b><i>Methods:</i></b> This was a retrospective study between November 1, 2019, and August 31, 2020, in Taiwan. Data were collected from 7,826 pregnant women self-referred for DGS screening with massive parallel shotgun sequencing-based NIPT. High-risk cases subsequently received amniocentesis for array comparative genomic hybridization (aCGH) to confirm the diagnosis. Characteristics of pregnancies were documented when participants received the test. Report of NIPT was completed 2 weeks after the test. Follow-up on high-risk cases was completed by telephone interview on January 30, 2021. <b><i>Results:</i></b> Thirteen cases showed high risk by NIPT, and 7 cases were confirmed by aCGH. The sensitivity and specificity were 100% (95% confidence interval [CI] 64.57–100.00%) and 99.92% (95% CI 99.83–99.96%). The prevalence of DGS was 1 in 1,118 pregnancies. The positive predictive rate was 53.85% (95% CI 29.14–76.79%). One true positive (TP) showed US anomaly, and 5 TPs selected termination. <b><i>Discussion/Conclusion:</i></b> NIPT demonstrated good performance in DGS screening. Detection of 22q11.2 deletion could be combined with routine screening to facilitate proper intervention.

Common Maternal Genetic Syndromes VI: 22q11.2 Deletion Syndrome

2020 ◽  
Author(s):  
Megan Boothe ◽  
Nathaniel Robin
Keyword(s):  
Digeorge Syndrome ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Deletion Syndrome ◽  
Genetic Syndromes ◽  
22Q11.2 Deletion ◽  
Psychiatric Disturbances ◽  
Psychiatric Complications ◽  
Management Recommendations

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome with an incidence of 1/3,000-1/4,000 live births. Common manifestations of 22q11.2DS include congenital heart defects, hypocalcemia, immune deficiency, cleft palate, cognitive deficits, and psychiatric disturbances. As childhood management of 22q11.2DS has improved, these individuals are living into adulthood and may have children of their own. Thus, it is imperative for the clinician to have an understanding of both the physical and psychiatric complications that may be seen in the adult with 22q11.2DS and how this may affect a pregnancy. Here we review the common features of 22q11.2DS in the adult and pregnancy management recommendations for the obstetrician.  This review contains 4 figures, 1 tables, and 27 references. Keywords: 22q11.2 Deletion Syndrome; DiGeorge Syndrome; Velocardiofacial Syndrome; 22q11.2 Deletion Syndrome Adult; 22q11.2 Deletion Syndrome pregnancy; DiGeorge Syndrome pregnancy; DiGeorge Syndrome adult. 

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