Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

American Journal of Medical Genetics. Part a
Michael R RossiPeining Li

Abstract

Variable clinical presentations of patients with chromosomally detected deletions in the distal long arm (q) of chromosome 4 have been reported. The lack of molecular characterization of the deletion sizes and deleted genes hinders further genotype-phenotype correlation. Using a validated oligonucleotide array comparative genomic hybridization (oaCGH) analysis, we examined two patients with apparent chromosomal deletions in the distal 4q region. In the first, oaCGH identified a 2.441 megabase (Mb) duplication and a 12.651 Mb deletion at 4q34.1 in a pregnant female who transmitted this aberration to her son. This mother has only learning disabilities while her son had both renal and cardiac anomalies in the newborn period. Unrecognized paternal genetic factors may contribute to the variable expression. The second patient is a 17-year-old female with a history of Pierre Robin sequence, cardiac abnormalities and learning disabilities. She was diagnosed prenatally with a de novo 4q deletion, and oaCGH defined a 16.435 Mb deletion of 4q34.1-4q35.2. Phenotypic comparison and subtractive genomic mapping between these two cases suggested a 4 Mb region possibly harboring a candidate gene for Pierre Robin sequence. Our cases and review o...Continue Reading

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Citations

Jan 5, 2011·Clinical & Developmental Immunology·Mohammed Al-OwainSaleh Al-Muhsen
Aug 13, 2011·European Journal of Pediatrics·Goran CuturiloMilena Stevanovic
Jan 30, 2013·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Yuan WeiPeining Li
Nov 26, 2010·European Journal of Medical Genetics·Ola A KhalifaA Verloes
Aug 1, 2012·American Journal of Medical Genetics. Part a·Eugen-Matthias StrehleTaosheng Huang
Mar 14, 2012·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Yanping ZhangL Bruno Ruest
Jun 29, 2010·American Journal of Medical Genetics. Part a·Mark S BatemanJohn C K Barber
Apr 9, 2015·American Journal of Medical Genetics. Part a·Luisa RonzoniMaria Francesca Bedeschi
Jun 23, 2015·American Journal of Medical Genetics. Part a·Manal Dayem-QuereHouda Karmous-Benailly
Mar 1, 2012·European Journal of Medical Genetics·Ali Rashidi-NezhadAlexandre Reymond
Nov 2, 2013·Molecular Cytogenetics·Emmanouil ManolakosIoannis Papoulidis
Sep 23, 2016·Frontiers in Cell and Developmental Biology·Chenghua CuiPeining Li
Jul 2, 2019·Cytogenetic and Genome Research·Zsolt TidrenczelArtúr Beke
May 30, 2020·Molecular Cytogenetics·Juan Pablo Meza-EspinozaVerónica Judith Picos-Cárdenas
Nov 18, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Anubhuti SoodDeepika Mishra

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