Literature DB >> 10869111

Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation.

S Spranger1, B Rommel, A Jauch, R Bodammer, B Mehl, J Bullerdiek.   

Abstract

Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4-year-old girl with a de novo deletion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID： 10869111     DOI： 10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Authors:  Markus Zweier; Anaïs Begemann; Kirsty McWalter; Megan T Cho; Lucia Abela; Siddharth Banka; Bettina Behring; Andrea Berger; Chester W Brown; Maryline Carneiro; Jiani Chen; Gregory M Cooper; Candice R Finnila; Maria J Guillen Sacoto; Alex Henderson; Ulrike Hüffmeier; Pascal Joset; Bronwyn Kerr; Gaetan Lesca; Gloria S Leszinski; John Henry McDermott; Meira R Meltzer; Kristin G Monaghan; Roya Mostafavi; Katrin Õunap; Barbara Plecko; Zöe Powis; Gabriela Purcarin; Tiia Reimand; Korbinian M Riedhammer; John M Schreiber; Deepa Sirsi; Klaas J Wierenga; Monica H Wojcik; Sorina M Papuc; Katharina Steindl; Heinrich Sticht; Anita Rauch
Journal:  Eur J Hum Genet       Date:  2019-01-21       Impact factor: 4.246

2.  Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation.

Authors:  Jin Hwan Lee; Hyo Jeong Kim; Jung Min Yoon; Eun Jung Cheon; Jae Woo Lim; Kyong Og Ko; Gyung Min Lee
Journal:  Korean J Pediatr       Date:  2016-11-30

Review 3.  CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.

Authors:  Sabiha Abekhoukh; Barbara Bardoni
Journal:  Front Cell Neurosci       Date:  2014-03-27       Impact factor: 5.505

4.  Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice.

Authors:  Yinhua Zhang; Rim Kang Hyae; Seung-Hyun Lee; Yoonhee Kim; Ruiying Ma; Chunmei Jin; Ji-Eun Lim; Seoyeon Kim; Yeju Kang; Hyojin Kang; Su Yeon Kim; Seok-Kyu Kwon; Se-Young Choi; Kihoon Han
Journal:  Front Mol Neurosci       Date:  2020-10-29       Impact factor: 5.639

5.  Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity.

Authors:  Taro Chaya; Hiroshi Ishikane; Leah R Varner; Yuko Sugita; Yamato Maeda; Ryotaro Tsutsumi; Daisuke Motooka; Daisuke Okuzaki; Takahisa Furukawa
Journal:  Hum Mol Genet       Date:  2022-02-21       Impact factor: 6.150
  5 in total

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