2007
DOI: 10.1002/ajmg.a.31931
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Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter

Abstract: Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes and are probably more frequent than suspected until recently. We describe the cytogenetic and molecular characterization of an inverted duplication of chromosome 2p in an 8-year-old girl. Firstly interpreted as partial duplication 2p, the rearrangement was in fact an inverted duplication associated with a terminal deletion of the short arm of the rearranged chromosome 2, the latter not being detectable by cy… Show more

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Cited by 22 publications
(18 citation statements)
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“…All patients share several features with the 2p23-pter trisomy phenotype, including severe mental retardation, typical facial appearance, ocular anomalies and congenital heart defects. 20 Two subjects with pure subtelomeric 2p deletion were recently reported by Ravnan et al 22 , but the size of the 2p deleted region was not defined at the molecular level (cases 30 and 31). The two patients showed developmental delay, dysmorphic features and a phenotype similar to that of Angelman syndrome.…”
Section: Discussionmentioning
confidence: 96%
“…All patients share several features with the 2p23-pter trisomy phenotype, including severe mental retardation, typical facial appearance, ocular anomalies and congenital heart defects. 20 Two subjects with pure subtelomeric 2p deletion were recently reported by Ravnan et al 22 , but the size of the 2p deleted region was not defined at the molecular level (cases 30 and 31). The two patients showed developmental delay, dysmorphic features and a phenotype similar to that of Angelman syndrome.…”
Section: Discussionmentioning
confidence: 96%
“…Chromosome 2 is rich in genes, and the more frequently detected chromosomal alterations are segmental duplications [Lurie et al, 1995;Magee et al, 1998;Gruchy et al, 2007;Guilherme et al, 2009]. This indicates that large deletions are most likely lethal and that the 2p region is highly sensitive to the loss of genetic material.…”
Section: Discussionmentioning
confidence: 99%
“…The syndrome of partial duplication 2p, as originally reported by Francke [1978], is a well-defined clinical entity, related to a syndromic phenotype with multiple characteristics including psychomotor retardation, dysmorphic facial features encompassing depressed nasal bridge, prominent forehead, micrognathia, congenital heart abnormalities, and genital hypoplasia [Francke and Jones, 1976;Francke, 1978;Al-Saffar et al, 2000;Aviram-Goldring et al, 2000;Thangavelu et al, 2004;Gruchy et al, 2007;Kochilas et al, 2008;Bonaglia et al, 2009]. After reviewing the literature, several cases of partial duplication of chromosome 2 were identified encompassing segment 2p22.3p22.2 [Say et al, 1980;Parruti et al, 1989;Heathcote et al, 1991;Sawyer et al, 1994;Lurie et al, 1995;Mégarbané et al, 1997;Thangavelu et al, 2004;Kochilas et al, 2008].…”
Section: Discussionmentioning
confidence: 99%