Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

American Journal of Medical Genetics. Part a
Nicolas ChatronCaroline Schluth-Bolard

Abstract

Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including 18 patients (4M/14F) aged from 2 days to 67 years and comprising two familial cases. The patients presented with a characteristic phenotype including mild to moderate intellectual disability (100%), intrauterine (92%) and postnatal (94%) growth retardation, microcephaly (77%), short hands and feet (83%), brachydactyly (70%), fifth finger clinodactyly (78%) and facial dysmorphism with a bulbous nose (72%), abnormal ears (67%) and micrognathia (56%). Other findings were abnormal palate (50%), single transverse palmar crease (53%), renal (38%), cardiac (38%), and genital (23%) malformations. The deletions were characterized by chromosome microarray. They were of different sizes (490 kb to 20.95 Mb) localized within chromosome bands 1q23.3-q31.2 (chr1:160797550-192912120, hg19). The 490 kb deletion is the smallest deletion reported to date associated with this phenotype. We delineated three regions that may contribute to the phenotype: a proximal one (chr1:164,501,003-167,022,133), associated with card...Continue Reading

References

Jul 1, 1991·Human Genetics·B FrancoJ R Lupski
Jan 1, 1981·Human Genetics·M MogheL M Ambani
Dec 1, 1982·American Journal of Medical Genetics·K TaysiR E Hillman
Jan 1, 1982·Human Genetics·A O Martin, J L Simpson
Mar 1, 1994·Genes, Chromosomes & Cancer·S P RomanaR Berger
Nov 1, 1993·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·L J LoY R Chen
Mar 15, 1993·American Journal of Medical Genetics·L G LeichtmanA R Brothman
Dec 24, 1998·Journal of Medical Genetics·D MelisG Andria
Dec 26, 2001·American Journal of Medical Genetics·R PallottaP Fusilli
Mar 21, 2003·Current Biology : CB·Noah W GrayMark A McNiven
May 12, 2005·Genomics·David A F LoebelPatrick P L Tam
Aug 27, 2005·Pediatrics International : Official Journal of the Japan Pediatric Society·Nobuhiko OkamotoNaomichi Matsumoto
Apr 29, 2006·Laryngo- rhino- otologie·C SchwemmleM Ptok
Dec 5, 2006·European Journal of Medical Genetics·M ChaabouniN Morichon
Oct 17, 2007·American Journal of Medical Genetics. Part a·Matteo Della MonicaGioacchino Scarano
Dec 13, 2007·The Journal of Clinical Endocrinology and Metabolism·Roland W PfaeffleSimon J Rhodes
Oct 18, 2008·American Journal of Medical Genetics. Part a·Maria DescartesLudwine M Messiaen
Nov 6, 2008·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Tokumitsu WatanabeTakashi Nakaoka
Apr 29, 2010·American Journal of Medical Genetics. Part a·Akira NishimuraNaomichi Matsumoto
May 7, 2011·American Journal of Medical Genetics. Part a·Deepika D'Cunha BurkardtJohn M Graham
Jun 22, 2011·Neuron·Andrea RaimondiPietro De Camilli
Oct 12, 2012·Journal of Medical Genetics·Flore ZuffereyUNKNOWN 16p11.2 European Consortium

❮ Previous
Next ❯

Citations

Jun 4, 2016·American Journal of Medical Genetics. Part a·Luisa MackenrothAndreas Tzschach
Jul 16, 2016·American Journal of Medical Genetics. Part a·Felicia Lam, Colleen Morris
Sep 9, 2016·Journal of Human Genetics·Mohammed Al-BughailiBjörn Fischer-Zirnsak
Nov 5, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Hamza M AlrabaiSebastian Farr
Aug 7, 2018·American Journal of Medical Genetics. Part a·Henrietta LefroyDeborah J Shears
Mar 8, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Paranchai BoonsawatAnita Rauch
Nov 22, 2020·Bone·Austin P Hensley, Audrey McAlinden

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.