ArticleAmerican journal of human genetics2003
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 52 citations in OpenAlex.
- Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Identification of novel genomic imbalances in Saudi patients with congenital heart disease.Molecular cytogenetics · 2018Article
- A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.Scientific reports · 2017Article
- Parent-of-origin effects in SOX2 anophthalmia syndrome.Molecular vision · 2011Article
- Genetic considerations in the prenatal diagnosis of overgrowth syndromes.Prenatal diagnosis · 2009Review
- Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.Journal of medical genetics · 2005Article
- Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.American journal of human genetics · 2005Article
- Chromosomal phenotypes and submicroscopic abnormalities.Human genomics · 2004Review
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Authors and funding
25 authors at 17 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sotos syndrome (SoS) is characterized by pre- and postnatal overgrowth with advanced bone age; a dysmorphic face with macrocephaly and pointed chin; large hands and feet; mental retardation; and possible susceptibility to tumors. It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1. In the present study, we traced the parental origin of the microdeletions in 26 patients with SoS by the use of 16 microsatellite markers at or flanking the commonly deleted region. Deletions in 18 of the 20 informative cases occurred in the paternally derived chromosome 5, whereas those in the maternally derived chromosome were found in only two cases. Haplotyping analysis of the marker loci revealed that the paternal deletion in five of seven informative cases and the maternal deletion in one case arose through an intrachromosomal rearrangement, and two other cases of the paternal deletion involved an interchromosomal event, suggesting that the common microdeletion observed in SoS did not occur through a uniform mechanism but preferentially arose prezygotically.
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