Terminal 3p deletions: Phenotypic variability, chromosomal non‐penetrance, or gene modification?
2008; Wiley; Volume: 146A; Issue: 14 Linguagem: Inglês
10.1002/ajmg.a.32387
ISSN1552-4833
Autores Tópico(s)Immunodeficiency and Autoimmune Disorders
ResumoAmerican Journal of Medical Genetics Part AVolume 146A, Issue 14 p. 1899-1901 Correspondence Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification?† John C.K. Barber, Corresponding Author John C.K. Barber [email protected] Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, UK National Genetics Reference Laboratory (Wessex), Salisbury Hospital NHS Trust, Salisbury, Wiltshire, UK Human Genetics Division, Southampton University School of Medicine, Southampton General Hospital, Southampton, UKWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK.Search for more papers by this author John C.K. Barber, Corresponding Author John C.K. Barber [email protected] Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, UK National Genetics Reference Laboratory (Wessex), Salisbury Hospital NHS Trust, Salisbury, Wiltshire, UK Human Genetics Division, Southampton University School of Medicine, Southampton General Hospital, Southampton, UKWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK.Search for more papers by this author First published: 13 June 2008 https://doi.org/10.1002/ajmg.a.32387Citations: 23 † How to cite this article: Barber JCK. 2008. Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification? Am J Med Genet Part A 146A:1899–1901. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES Barber JCK. 2005. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42: 609– 629. Barber JCK, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, Kirchhoff M, Krag-Olsen B, Lundsteen C. 2005. Segmental haplosufficiency: Transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Eur J Hum Genet 13: 283– 291. Cargile CB, Goh DL, Goodman BK, Chen XN, Korenberg JR, Semenza GL, Thomas GH. 2002. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. Am J Med Genet 109: 133– 138. Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K. 2006. FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. Am J Med Genet Part A 140A: 2482– 2487. Drumheller T, McGillivray BC, Behrner D, MacLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI. 1996. Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. J Med Genet 33: 842– 847. Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. 2004. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 74: 1286– 1293. Jervis GA, Newkirk P, Kousseff BG. 2002. Deletion 3p25.3 in a mother and daughter with normal phenotype. Am J Hum Genet 71: (Abstract #717). Hoo JJ, Shrimpton AE. 2008. Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay. Am J Med Genet Part A 146A: 538. Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. 2007. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 80: 232– 240. Knight LA, Yong MH, Tan M, Ng ISL. 1995. Del(3)(p25.3) without phenotypic effect. J Med Genet 30: 613. Malmgren H, Sahlén S, Wide K, Lundvall M, Blennow E. 2007. Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. Am J Med Genet Part A 143A: 2143– 2149. Rivera H, Domínguez MG, Matute E. 2006. Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment. Genet Couns 17: 401– 405. Shrimpton AE, Jensen KA, Hoo JJ. 2006. Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit. Am J Med Genet Part A 140A: 388– 391. Takagishi J, Rauen KA, Drumheller T, Kousseff B, Sutcliffe M. 2006. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. Am J Med Genet Part A 140A: 1587– 1593. Tazelaar J, Roberson J, Vandyke DL, Babu VR, Weiss L. 1991. Mother and son with deletion of 3p25-pter. Am J Med Genet 39: 130– 132. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. 2007. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 28: 674– 682. Citing Literature Volume146A, Issue1415 July 2008Pages 1899-1901 ReferencesRelatedInformation
Referência(s)