Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion

2006 ◽  
Vol 26 (13) ◽  
pp. 1212-1215 ◽  
Author(s):  
Jennifer McClarren ◽  
Alan E. Donnenfeld ◽  
J. Britt Ravnan
Keyword(s):  
Prenatal Diagnosis ◽  
Paracentric Inversion ◽  
Truncus Arteriosus ◽  
22Q11.2 Deletion

scholarly journals Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review

2020 ◽  
Vol 20 (2) ◽  
pp. 745-752 ◽  
Author(s):  
Judith Namuyonga ◽  
Sulaiman Lubega ◽  
Twalib Aliku ◽  
John Omagino ◽  
Craig Sable ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Heart Defects ◽  
Truncus Arteriosus ◽  
Deletion Syndrome ◽  
Mulago Hospital ◽  
22Q11.2 Deletion ◽  
Heart Institute

Background: Congenital heart disease (CHD) is the most common congenital anomaly in children. Over half of the deaths due to CHD occur in the neonatal period. Most children with unrepaired complex heart lesions do not live to celebrate their first birthday. We describe the spectrum of congenital heart disease in Uganda. Methods: We retrospectively reviewed the data of children with CHD who presented to the Uganda Heart Institute (UHI), Mulago Hospital Complex from 2007 to 2014. Results: A total of 4621 children were seen at the UHI during the study period. Of these, 3526 (76.3%) had CHD; 1941(55%) were females. Isolated ventricular septal defect (VSD) was the most common CHD seen in 923 (27.2%) children followed by Patent ductus arteriosus (PDA) 760 (22%) and atrial septal defects (ASD) 332 (9.4%). Tetralogy of Fallot (TOF) and Truncus arteriosus were the most common cyanotic heart defects (7% and 5% respectively). Dysmorphic features were diagnosed in 185 children, of which 61 underwent genetic testing (Down syndrome=24, 22q11.2 deletion syndrome n=10). Children with confirmed 22q11.2 deletion had conotruncal abnormalities. Conclusion: Isolated VSD and Tetralogy of Fallot are the most common acyanotic and cyanotic congenital heart defects. We report an unusually high occurrence of Truncus arteriosus. Keywords: Congenital heart disease; children; Uganda.

scholarly journals EP11.13: Prenatal diagnosis of truncus arteriosus in the Amazon

2019 ◽  
Vol 54 (S1) ◽  
pp. 301-302
Author(s):  
J. Arruda ◽  
M.F. Brock ◽  
J. Leão
Keyword(s):  
Prenatal Diagnosis ◽  
Truncus Arteriosus

Prenatal diagnosis and antenatal history of persistent truncus arteriosus: A case report

2002 ◽  
Vol 29 (3) ◽  
pp. 113-117
Author(s):  
Chin-Yuan Hsu ◽  
On Fukui ◽  
Yoshihito Sasaki ◽  
Susumu Miyashita ◽  
Yoshihide Chiba
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Truncus Arteriosus ◽  
Persistent Truncus Arteriosus ◽  
History Of

Prenatal diagnosis of tricuspid atresia with hypoplastic right ventricle associated with truncus arteriosus communis type II

2009 ◽  
Vol 281 (2) ◽  
pp. 255-259 ◽  
Author(s):  
Gabriele Tonni ◽  
Marco Panteghini ◽  
Alessandro Ventura ◽  
Maria Paola Bonasoni ◽  
Giulia Rognoni ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Right Ventricle ◽  
Tricuspid Atresia ◽  
Truncus Arteriosus ◽  
Type Ii ◽  
Hypoplastic Right Ventricle

A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability

2015 ◽  
Vol 146 (2) ◽  
pp. 109-114
Author(s):  
Maria A. Rigola ◽  
Neus Baena ◽  
Vicenç Català ◽  
Iris Lozano ◽  
Elisabet Gabau ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Paracentric Inversion ◽  
Position Effects ◽  
Chromosomal Alterations ◽  
Molecular Cytogenetic ◽  
Chromosome 1Q ◽  
Chromosomal Inversions ◽  
Cytogenetic Methods

Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion.

scholarly journals A rare case of truncus arteriosus Van Praagh type A3: Prenatal diagnosis and postnatal management

2019 ◽  
Vol 20 (1) ◽  
pp. 30-34
Author(s):  
Yuki Kawasaki ◽  
Yosuke Murakami ◽  
Eiji Ehara ◽  
Tomoaki Oshitani ◽  
Kae Nakamura ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Rare Case ◽  
Truncus Arteriosus ◽  
Postnatal Management

Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report

2012 ◽  
Vol 41 ◽  
pp. 6-9 ◽  
Author(s):  
Ahmet Gul ◽  
Kemal Gungorduk ◽  
Isil Turan ◽  
Gokhan Yildirim ◽  
Ali Gedikbasi ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Twin Pregnancy ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion
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