Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay. (21st April 2015)

• Record Type: Journal Article
• Authors: Wilson, Brian T.; Omer, Murwan; Hellens, Stephen W.; Zwolinski, Simon A.; Yates, Laura M.; Lynch, Sally Ann
• Is Part Of: American journal of medical genetics. Volume 167:Number 8(2015:Aug.)
• Page Start: 1916
• Page End: 1920
• Publication Date: 2015-04-21
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37114
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37114-sec-0001" sec-type="section"> <p>We describe two patients with microdeletion 1p35.2, intrauterine growth retardation, small stature, hypermetropia, hearing impairment and developmental delay. Both patients have long, myopathic facies, with fine eyebrows, small mouths and micrognathia. We postulate a role for the histone deacetylase <italic>HDAC1</italic> in the facial phenotype and suggest that deletion of <italic>KPNA6</italic> may prevent transmission of the 1p35.2 deletion from affected girls to any offspring through impaired zygotic genome activation. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>