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Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
- Source :
-
American journal of human genetics [Am J Hum Genet] 1999 Apr; Vol. 64 (4), pp. 1119-26. - Publication Year :
- 1999
-
Abstract
- Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p.
- Subjects :
- Abnormalities, Multiple genetics
Abnormalities, Multiple physiopathology
Adolescent
Adult
Child
Child, Preschool
Chromosome Breakage genetics
Chromosomes, Artificial, Yeast genetics
Female
Genotype
Heart Defects, Congenital physiopathology
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Karyotyping
Male
Microsatellite Repeats genetics
Phenotype
Polymorphism, Genetic genetics
Chromosome Deletion
Chromosomes, Human, Pair 8 genetics
Heart Defects, Congenital genetics
Physical Chromosome Mapping
Subjects
Details
- Language :
- English
- ISSN :
- 0002-9297
- Volume :
- 64
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 10090897
- Full Text :
- https://doi.org/10.1086/302330