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微阵列技术检测Wolf-Hirschhorn综合征一例 被引量:4

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摘要 Wolf-Hirschhorn综合征(WHS)是一种罕见的染色体病,为4号染色体短臂p16.3缺失所导致的染色体缺失综合征。1965年Wolf等和Hirschhorn等首先报道,约90%源自新发生的突变,男女比为1∶2[1,2]。该病的主要临床表现是:具有特殊面容、生长发育障碍、智力低下、肌张力减退、癫痫、先心病、骨骼畸形等各种异常。
出处 《中国优生与遗传杂志》 2016年第4期40-41,共2页 Chinese Journal of Birth Health & Heredity
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  • 1Wright T,Ricke D,Denison K,Abmayr S,Cotter P,Hirschhorn K,et al.A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.Hum Mol Genet 1997; 6:317-324.
  • 2South S,Whitby H,Battaglia A,Carey J,Brothman A.Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.Eur J Hum Genet 2008; 16:45-52.
  • 3Battaglia A,Filippi T,Carey J.Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome:Experience with 87 patients and recommendations for routine health supervision.Am J Med Genet C Semin Med Genet 2008; 148C:246-251.
  • 4Battaglia A,Carey JC,Cederholm P,Viskochil DH,Brothman AR,Galasso C.Natural history of Wolf-Hirschhorn syndrome:experience with 15 cases.Pediatrics 1999; 103:830-836.
  • 5Battaglia A,Carey JC,Viskochil DH,Cederholm P,Opitz JM.Wolf-Hirschhorn syndrome (WHS):a history in pictures.Clin Dysmorphol 2000; 9:25-30.
  • 6Estabrooks LL,Breg WR,Hayden MR,Ledbetter DH,Myers RM,Wyandt HE,et al.Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".Am J Med Genet 1995; 55:453-458.
  • 7Wilson MG,Towner JW,Coffin GS,Ebbin AJ,Siris E,Brager P.Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome.Hum Genet 1981; 59:297-307.
  • 8Simon R,Bergemann A.Mouse models of Wolf-Hirschhorn syndrome.Am J Med Genet C Semin Med Genet 2008; 148C:275-280.
  • 9Stec I,Wright TJ,van Ommen GJ,de Boer PA,van Haeringen A,Moorman AF,et al.WHSC1,a 90 kb SET domain-containing gene,expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.Hum Mol Genet 1998; 7:1071-1082.
  • 10Wright TJ,Costa JL,Naranjo C,Francis-West P,Altherr MR.Comparative analysis of a novel gene from the Wolf-Hirschhom/Pitt-Rogers-Danks syndrome critical region.Genomics 1999; 59:203-212.

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