A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf‐Hirschhorn syndrome

Wieland, Ilse; Schanze, Denny; Schanze, Ina; Volleth, Marianne; Muschke, Petra; Zenker, Martin

doi:10.1002/ajmg.a.36765

Cited by 4 publications

(1 citation statement)

References 7 publications

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“…Three syndromes initially reported as X-linked have been found to be autosomal and have been retired. These are Zollino syndrome, initially believed to be X-linked based on one pedigree and subsequently found to be due to an unbalanced 1;12 translocation (Zollino et al 1992, 2003), Roifman syndrome, initially reported to be X-linked and subsequently found to be caused by a deletion on 2q (Roifman 1999, Merico et al 2015), and Wittwer syndrome, initially mapped to Xp22.3 and later found to be caused by an unbalanced 4;17 translocation (Wittwer et al 1996, Wieland et al 2014).…”

Section: Listing Of All Known Genesmentioning

confidence: 99%

X‐linked intellectual disability update 2017

Neri

Schwartz

Lubs

et al. 2018

American J of Med Genetics Pt A

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The X-chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in identifying the X-linked intellectual disability (XLID)-associated genes through linkage analysis and candidate gene sequencing has been accelerated with the use of high-throughput technologies. In the 10 years since the last update, the number of genes associated with XLID has increased by 96% from 72 to 141 and duplications of all 141 XLID genes have been described, primarily through the application of high-resolution microarrays and next generation sequencing. The progress in identifying genetic and genomic alterations associated with XLID has not been matched with insights that improve the clinician's ability to form differential diagnoses, that bring into view the possibility of curative therapies for patients, or that inform scientists of the impact of the genetic alterations on cell organization and function.

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