Literature DB >> 21385658

De novo interstitial deletion of chromosome 2 (p23p24).

Pen-Hua Su1, Jia-Yuh Chen, Teng-Fu Tsao, Suh-Jen Chen.   

Abstract

Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.1 and three cases of 2p23.3-2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna-congenital radioulnar synostosis-were first visualized by multidetector-row computed tomography scan.
Copyright © 2011. Published by Elsevier B.V.

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Year:  2011        PMID: 21385658     DOI: 10.1016/j.pedneo.2010.12.001

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN: 1875-9572            Impact factor:   2.083


  1 in total

1.  PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Authors:  Hamidreza Khodadadi; Luis J Azcona; Vajiheh Aghamollaii; Mir Davood Omrani; Masoud Garshasbi; Shaghayegh Taghavi; Abbas Tafakhori; Gholam Ali Shahidi; Javad Jamshidi; Hossein Darvish; Coro Paisán-Ruiz
Journal:  Mov Disord       Date:  2016-10-18       Impact factor: 10.338

  1 in total

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