2001
DOI: 10.1002/ajmg.1534.abs
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Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features

Abstract: We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3-->23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting,… Show more

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Cited by 9 publications
(7 citation statements)
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“…The milder phenotype in our proposita could be due to several reasons such as smaller size duplication or position effects. Although position effects and orientation of duplication may have a role, the most likely explanation for the milder phenotype in our case and other published cases of dir dup(8p) is the smaller size of duplication as suggested by Fan et al 2001.…”
Section: Discussionsupporting
confidence: 51%
“…The milder phenotype in our proposita could be due to several reasons such as smaller size duplication or position effects. Although position effects and orientation of duplication may have a role, the most likely explanation for the milder phenotype in our case and other published cases of dir dup(8p) is the smaller size of duplication as suggested by Fan et al 2001.…”
Section: Discussionsupporting
confidence: 51%
“…The mother was described as having slight hypertelorism and ptosis. Six cases (five familial cases from two families and one sporadic case) with duplication of 8p21.3–23.1 were reported to have variable congenital heart defects including one patient with hypoplasia of the left outflow tract, one with a dilated aorta, and one with a bicuspid aortic valve [Fan et al, 2001]. All had some degree of developmental disability.…”
Section: Discussionmentioning
confidence: 99%
“…86 Family 1 was ascertained with a complex heart defect but the mother and a sibling had the same duplication and no heart defects. Family 2 was ascertained for speech delay in a girl who had an IQ of 71 at age 6 and minor facial anomalies.…”
Section: Del(8)(p231/2-pter)mentioning
confidence: 99%