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Literature DB >> 9014807

Isomerism of the atrial appendages associated with 22q11 deletion in a fetus.

R W Yates¹, F L Raymond, A Cook, G K Sharland.

Abstract

There is a strong association between prenatally diagnosed structural heart disease and fetal chromosomal abnormalities. Isomerism of the atrial appendages is an exception to this because the fetal karyotype is usually normal in this condition. A case of atrial isomerism diagnosed antenatally with a normal female karyotype but with a microdeletion of chromosome 22q11 is reported.

Entities: Disease

Mesh：

Year: 1996 PMID： 9014807 PMCID： PMC484611 DOI： 10.1136/hrt.76.6.548

Source DB: PubMed Journal: Heart ISSN： 1355-6037 Impact factor: 5.994

8 in total

Review 1. DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Authors: F Greenberg
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

2. Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis.

Authors: V Rose; T Izukawa; C A Moës
Journal: Br Heart J Date: 1975-08

3. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.

Authors: B Casey; M Devoto; K L Jones; A Ballabio
Journal: Nat Genet Date: 1993-12 Impact factor: 38.330

4. Predicting aneuploidy in fetuses with cardiac anomalies: significance of visceral situs and noncardiac anomalies.

Authors: D L Brown; D S Emerson; L P Shulman; P M Doubilet; R E Felker; S Van Praagh
Journal: J Ultrasound Med Date: 1993-03 Impact factor: 2.153

5. Consanguinity and complex cardiac anomalies with situs ambiguus.

Authors: A R Gatrad; A P Read; G H Watson
Journal: Arch Dis Child Date: 1984-03 Impact factor: 3.791

6. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors: D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

7. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

Authors: S H Britz-Cunningham; M M Shah; C W Zuppan; W H Fletcher
Journal: N Engl J Med Date: 1995-05-18 Impact factor: 91.245

8. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Authors: E Goldmuntz; D Driscoll; M L Budarf; E H Zackai; D M McDonald-McGinn; J A Biegel; B S Emanuel
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

8 in total

4 in total

Isomerism of the atrial appendages associated with 22q11 deletion in a fetus.

Review 1. DiGeorge syndrome: an historical review of clinical and cytogenetic features.

2. Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis.

3. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.

4. Predicting aneuploidy in fetuses with cardiac anomalies: significance of visceral situs and noncardiac anomalies.

5. Consanguinity and complex cardiac anomalies with situs ambiguus.

6. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

7. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

8. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

1. Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

Review 2. Transcription factor pathways and congenital heart disease.

3. A population study of chromosome 22q11 deletions in infancy.

4. Prenatal diagnosis of complete atrioventricular septal defect: perinatal and neonatal outcomes.