Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype

American Journal of Medical Genetics. Part a
Pia PohjolaHelena Kääriäinen

Abstract

The 3p deletion syndrome is a rare disorder caused by deletions of different sizes in the 3p25-pter region. It is characterized by growth retardation, developmental delay, mental retardation, dysmorphism, microcephaly, and ptosis. The phenotype of individuals with deletions varies from normal to severe. Most cases occur de novo, but a few familial cases have been reported. We describe two families with terminal 3p deletions and extremely variable clinical features. In family A, the mother and daughter were extremely mildly affected whereas the son had more severe clinical features. In family B, the mother was normal and her son was affected, having some symptoms that had not been described in the 3p deletion syndrome before. The deletions were characterized by genome-wide SNP array analysis and were 9 and 1.1 Mb in size. Sequencing analysis of the CHL1, CNTN4, and CRBN genes did not reveal any masked recessive alleles that might explain the more severe phenotypes in the probands. In family A, the 9 Mb deletion can be considered causal for the 3p deletion syndrome in the proband, but the extremely mild phenotype in the other family members remains unexplained. In family B, the 1.1 Mb terminal deletion encompasses only the CHL1 g...Continue Reading

References

Jan 1, 1978·American Journal of Diseases of Children·M Verjaal, M B De Nef
May 1, 1991·American Journal of Medical Genetics·J TazelaarL Weiss
Jun 1, 1994·Human Molecular Genetics·M E PhippsA Schinzel
Dec 1, 1995·Journal of Medical Genetics·L A KnightI S Ng
Oct 1, 1996·Journal of Medical Genetics·T DrumhellerD I Smith
Nov 14, 2000·International Journal of Pediatric Otorhinolaryngology·S KariyaK Nishizaki
Apr 27, 2002·American Journal of Medical Genetics·Colyn B CargileGeorge H Thomas
Aug 3, 2005·Journal of Medical Genetics·J C K Barber
Jun 14, 2006·American Journal of Medical Genetics. Part a·Jennifer TakagishiMaxine Sutcliffe
Mar 17, 2007·DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes·Jayne Y Hehir-KwaJoris A Veltman
Aug 21, 2007·American Journal of Medical Genetics. Part a·Helena MalmgrenElisabeth Blennow
Feb 8, 2008·American Journal of Medical Genetics. Part a·Cheryl DeScipioHarold Riethman
Jun 17, 2008·American Journal of Medical Genetics. Part a·John C K Barber

❮ Previous
Next ❯

Citations

Mar 30, 2011·Journal of Molecular Modeling·Karolina MikulskaWiesław Nowak
May 31, 2011·The Journal of Biological Chemistry·Haihong YeZhi-Cheng Xiao
Oct 9, 2012·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Feb 13, 2013·American Journal of Medical Genetics. Part a·Carla Sustek D'AngeloCelia Priszkulnik Koiffmann
Jan 22, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Hywel J WilliamsMichael J Owen
Feb 11, 2011·Autism Research : Official Journal of the International Society for Autism Research·Catherine E CottrellGail E Herman
Sep 12, 2012·American Journal of Medical Genetics. Part a·Angelika RiessAndreas Tzschach
Aug 21, 2012·American Journal of Medical Genetics. Part a·Iskra T PeltekovaChristine M Armour
Aug 16, 2014·American Journal of Medical Genetics. Part a·Setareh MoghadasiClaudia A L Ruivenkamp
Mar 28, 2012·Cochlear Implants International·Daniel H CoelhoAristides Sismanis
Aug 19, 2015·Molecular Cytogenetics·Orazio PalumboMassimo Carella
Apr 30, 2014·Case Reports in Genetics·Leah Te WeehiDonald R Love
Dec 10, 2016·Prenatal Diagnosis·Veronica BertiniAngelo Valetto
Aug 19, 2011·Cytogenetic and Genome Research·R Santos GuilhermeM I Melaragno
Feb 8, 2020·BMC Medical Genetics·Meriam Hadj AmorSoumaya Mougou-Zerelli
Mar 2, 2021·Frontiers in Pediatrics·Junxian FuGuanglu Yang
May 4, 2021·Clinical Case Reports·Márcia MartinsRosário Pinto Leite
Jun 1, 2021·Molecular Genetics & Genomic Medicine·Melissa Tsuboyama, Mohammed Anwar Iqbal

❮ Previous
Next ❯

Related Concepts

Related Feeds

Body Dysmorphic Disorder

Body dysmorphic disorder is an intense preoccupation with an imagined defect in ones physical appearance. It can be a severely impairing disorder and is common among patients with obsessive-compulsive disorder. Discover the latest research on body dysmorphic disorder here.

Cell Adhesion Molecules in the Brain

Cell adhesion molecules found on cell surface help cells bind with other cells or the extracellular matrix to maintain structure and function. Here is the latest research on their role in the brain.