Literature DB >> 24840832

A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.

Qinying Cao1, Yuanyuan Peng, Jun Ge, Yanhua Zhang, Junzhen Zhu, Lijuan Zhao.   

Abstract

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Year:  2014        PMID： 24840832     DOI： 10.1007/s12041-014-0318-7

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  13 in total

1.  A t(5;16)(p15.32;q23.3) generating 16q23.3 --> qter duplication and 5p15.32 --> pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay.

Authors:  Ali Hellani; Sarar Mohamed; Siham Al-Akoum; Thomas M Bosley; Khaled K Abu-Amero
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

Review 2.  Genetics and pathophysiology of mental retardation.

Authors:  Jamel Chelly; Malik Khelfaoui; Fiona Francis; Beldjord Chérif; Thierry Bienvenu
Journal:  Eur J Hum Genet       Date:  2006-06       Impact factor: 4.246

3.  Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.

Authors:  O Mutchinick; Z Ramos; F Sánchez; L Ruz; R Lisker; J Ovseyevitz
Journal:  Am J Med Genet       Date:  1988-01

4.  A duplication dup(4)(q28q35.2) de novo in a newborn.

Authors:  Iveta Cernakova; Marta Kvasnicova; Zuzana Lovasova; Nora Badova; Jiri Drabek; Katerina Bouchalova; Radek Trojanec; Marian Hajduch
Journal:  Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub       Date:  2006-07       Impact factor: 1.245

5.  Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1972-03       Impact factor: 11.025

6.  Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation.

Authors:  A Gencik; A Gencikova; A Pálova
Journal:  Acta Paediatr Acad Sci Hung       Date:  1982

7.  Cri du chat syndrome: changing phenotype in older patients.

Authors:  G J Van Buggenhout; E Pijkels; M Holvoet; C Schaap; B C Hamel; J P Fryns
Journal:  Am J Med Genet       Date:  2000-01-31

8.  High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.

Authors:  Xiaoxiao Zhang; Antoine Snijders; Richard Segraves; Xiuqing Zhang; Anita Niebuhr; Donna Albertson; Huanming Yang; Joe Gray; Erik Niebuhr; Lars Bolund; Dan Pinkel
Journal:  Am J Hum Genet       Date:  2005-01-04       Impact factor: 11.025

9.  Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.

Authors:  D Murru; L Boccone; M S Ristaldi; A L Nucaro
Journal:  Genet Couns       Date:  2008

Review 10.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123
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  2 in total

1.  Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Authors:  Dora Steel; Vincenzo Salpietro; Rahul Phadke; Matthew Pitt; Giulia Gentile; Ahmed Massoud; Leigh Batten; Anu Bashamboo; Ken Mcelreavey; Anand Saggar; Maria Kinali
Journal:  J Genet       Date:  2015-12       Impact factor: 1.166

2.  Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy.

Authors:  Miriam Kessi; Juan Xiong; Liwen Wu; Lifen Yang; Fang He; Chen Chen; Nan Pang; Haolin Duan; Wen Zhang; Ahmed Arafat; Fei Yin; Jing Peng
Journal:  Front Neurol       Date:  2018-11-19       Impact factor: 4.003
  2 in total

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