Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis
2008; Wiley; Volume: 74; Issue: 3 Linguagem: Inglês
10.1111/j.1399-0004.2008.01046.x
ISSN1399-0004
AutoresDuangrurdee Wattanasirichaigoon, Patama Promsonthi, Ampaiwan Chuansumrit, Juvady Leopairut, Pattamawadee Yanatatsaneejit, Prakasit Rattanatanyong, Thongperm Munkongdee, Suthat Fucharoen, Apiwat Mutirangura,
Tópico(s)Hemoglobinopathies and Related Disorders
ResumoClinical GeneticsVolume 74, Issue 3 p. 284-287 Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis D Wattanasirichaigoon, Corresponding Author D Wattanasirichaigoon Department of PediatricsDuangrurdee Wattanasirichaigoon, MDDepartment of PediatricsFaculty of Medicine Ramathibodi HospitalMahidol UniversityRama 6 RoadBangkok 10400ThailandTel.: +66 2201 2782Fax: +66 2201 1850e-mail: [email protected]Search for more papers by this authorP Promsonthi, P Promsonthi Department of Obstetrics and GynecologySearch for more papers by this authorA Chuansumrit, A Chuansumrit Department of PediatricsSearch for more papers by this authorJ Leopairut, J Leopairut Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandSearch for more papers by this authorP Yanatatsaneejit, P Yanatatsaneejit Department of Genetics, Faculty of ScienceSearch for more papers by this authorP Rattanatanyong, P Rattanatanyong Molecular Biology and Genetics of Cancer Development Research Unit, Department of Anatomy, Chulalongkorn University, Bangkok, ThailandSearch for more papers by this authorT Munkongdee, T Munkongdee Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, ThailandSearch for more papers by this authorS Fucharoen, S Fucharoen Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, ThailandSearch for more papers by this authorA Mutirangura, A Mutirangura Molecular Biology and Genetics of Cancer Development Research Unit, Department of Anatomy, Chulalongkorn University, Bangkok, ThailandSearch for more papers by this author D Wattanasirichaigoon, Corresponding Author D Wattanasirichaigoon Department of PediatricsDuangrurdee Wattanasirichaigoon, MDDepartment of PediatricsFaculty of Medicine Ramathibodi HospitalMahidol UniversityRama 6 RoadBangkok 10400ThailandTel.: +66 2201 2782Fax: +66 2201 1850e-mail: [email protected]Search for more papers by this authorP Promsonthi, P Promsonthi Department of Obstetrics and GynecologySearch for more papers by this authorA Chuansumrit, A Chuansumrit Department of PediatricsSearch for more papers by this authorJ Leopairut, J Leopairut Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandSearch for more papers by this authorP Yanatatsaneejit, P Yanatatsaneejit Department of Genetics, Faculty of ScienceSearch for more papers by this authorP Rattanatanyong, P Rattanatanyong Molecular Biology and Genetics of Cancer Development Research Unit, Department of Anatomy, Chulalongkorn University, Bangkok, ThailandSearch for more papers by this authorT Munkongdee, T Munkongdee Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, ThailandSearch for more papers by this authorS Fucharoen, S Fucharoen Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, ThailandSearch for more papers by this authorA Mutirangura, A Mutirangura Molecular Biology and Genetics of Cancer Development Research Unit, Department of Anatomy, Chulalongkorn University, Bangkok, ThailandSearch for more papers by this author First published: 13 August 2008 https://doi.org/10.1111/j.1399-0004.2008.01046.xCitations: 9Read 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 Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Abu-Amero SN, Ali Z, Abu-Amero KK et al. An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet 1999: 36 (3): 204–207. 2 Kalousek DK, Langlois S, Barrett I et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993: 52 (1): 8–16. 3 Kondo Y, Tsukishiro S, Tanemura M et al. Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion. J Hum Genet 2004: 49 (4): 177–181. 4 Moore GE, Ali Z, Khan RU et al. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol 1997: 176 (2): 294–299. 5 Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn 1995: 15 (2): 109–121. 6 Eggermann T, Curtis M, Zerres K et al. Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases. Genet Couns 2004: 15 (2): 183–190. 7 Vaughan J, Ali Z, Bower S et al. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 1994: 14 (8): 751–756. 8 Schneider AS, Bischoff FZ, McCaskill C et al. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet 1996: 66 (2): 204–208. 9 Kohlhase J, Janssen B, Weidenauer K et al. First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet 2000: 91 (3): 190–191. 10 Vichinsky E. Hemoglobin e syndromes. Hematology Am Soc Hematol Educ Program 2007: 2007: 79–83. 11 Chan Y, Silverman N, Jackson L et al. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet 2000: 94 (4): 284–286. 12 Puehringer H, Najmabadi H, Law HY et al. Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clin Chem Lab Med 2007: 45 (5): 605–610. 13 Mutirangura A, Greenberg F, Butler MG et al. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993: 2 (2): 143–151. 14 Edenberg HJ, Foroud T, Conneally PM et al. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 3, 5, 15, 16, 17, and 22. Am J Med Genet 1997: 74 (3): 238–246. 15 Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 2006: 14 (11): 1158–1169. 16 Pulkkinen L, Bullrich F, Czarnecki P et al. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 1997: 61 (3): 611–619. 17 Sulisalo T, Makitie O, Sistonen P et al. Uniparental disomy in cartilage-hair hypoplasia. Eur J Hum Genet 1997: 5 (1): 35–42. 18 Voss R, Ben-Simon E, Avital A et al. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 1989: 45 (3): 373–380. Citing Literature Volume74, Issue3September 2008Pages 284-287 ReferencesRelatedInformation
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