Tetralogy of Fallot in monozygotic triplets

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133637

Victorica, B E; Kumar, A; Zori, R T ^[1]

---

1. Univ. of Florida, Gainesville, FL (United States)

Tetralogy of Fallot (TOF), like most other congenital heart defects, is considered to be of multifactorial inheritance. Occasional families with multiple affected members in one or more generations above been described. A stronger genetic influence in the causation of isolated TOF is also supported by recent demonstration of microdeletions in chromosome 22q11 region. Deletions in this region are also responsible for DiGeorge and velocardiofacial syndrome as well as CHARGE association. We report a set of monozygotic triplets born to healthy parents at 35 weeks of gestation. There was no family history of congenital heart defects. All three had TOF with left aortic arch (documented by cardiac catheterization in 2 and echocardiography in all 3). The degree of right ventricular outflow obstruction varied from mild to complete atresia needing prostaglandin infusion and a subsequent Blalock-Taussig shunt in one. No features of DiGeorge syndrome or any other congenital defects were present. High resolution chromosome analysis of peripheral blood lymphocytes of these infants revealed normal 46,XY male karyotype. Fluorescent in situ hybridization (FISH) using probe D22S75, which maps to chromosome 22q11.2 did not detect any deletion. This pedigree suggests a de novo mutation causing TOF in all 3 monozygotic triplets. Although there is no deletion demonstrable in DiGeorge critical region, a smaller deletion or mutation in this region cannot be excluded.

• OSTI ID: 133637
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CARDIOVASCULAR DISEASES
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
DNA HYBRIDIZATION
FLUORESCENCE
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
KARYOTYPE
PATIENTS
PROBES