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Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation by Wu, Bai-Lin; Schneider, Gretchen H.; Sabatino, Denise E.; Bozovic, Ljiljana Z.; Cao, Benning; Korf, Bruce R. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation about?

We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolution G and R banding showed in all three patients de1(8)(p23.1), but the breakpoint in case 1 was distal to 8~23.1, in case 2 was in the middle of 8~23.1, and in case 3 proximal to 8~23.1. Fluorescence in situ hybridization (FISH) studies with a chromosome 8 paint probe confirmed that no other rearrangement had occurred. FISH with a chromosome 8-specific telomere probe indicated that two patients had terminal deletions. Chromosome analysis of the parents of case 1 and mother of case 2 were normal; the remaining parents were not available for study. Thirteen individual patients including the three in this study, and three relatives in one family with de1(8)(p23.1), have been reported in the past 5 years. Major congenital anomalies, especially congenital heart defects, are most often associated with a breakpoint proximal to 8~23.1. Three patients were found within a 3-year period in this s

Who reads Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation?

Author

Wu, Bai-Lin; Schneider, Gretchen H.; Sabatino, Denise E.; Bozovic, Ljiljana Z.; Cao, Benning; Korf, Bruce R.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1996

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)