Associations between chromosomal anomalies and congenital heart defects: Adatabase search

Recent technical advances in molecular biology and cytogenetics, as well as a more developmental approach to congenital heart disorders (CHDs), have l ed to considerable progress in our understanding of their pathogenesis, esp ecially of the important causative role of genetic factors. The complex emb ryology of the heart suggests the involvement of numerous genes, and hence, numerous chromosomal loci, such as the recently identified 22q11, in norma l cardiomorphogenesis, In order to identify other loci, the Human Cytogenet ics DataBase was searched for all chromosome anomalies associated with CHD. Through the application of several (arbitrary) criteria we have selected a ssociations occurring so frequently that they may not be forfuituous, sugge sting assignment of a gene or genes responsible for specific CHDs to certai n chromosome regions, The results of this study may be a first step in the detection of specific chromosome defects responsible for CHD, which will be useful in daily patient care and may provide clues for further cytogenetic and molecular studies. Am. J, Med, Genet, 84:158-166, 1999, (C) 1999 Wiley -Liss, Inc.