METHODS: In case 1, a maternal isodisomy mixed with a heterodisomy was found on chromosome 6, including a regional absence of heterozygosity between 6q23.3 and 6q27. In case 2, a homozygous SCUBE3 mutation and upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat, involving the 6p21.1-25.1 region were found. Clinical data related to upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat were also reviewed. Of all the 21 reported cases with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat (including our 2 cases), 18 (85.7%) presented IUGR.
CONCLUSIONS: The phenotypes of the two newly identified patients with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat further suggest that IUGR is associated with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat and case 2 is the first reported upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat patient with a homozygous SCUBE3 gene mutation. However, the specific phenotypes involved in upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet Part A. 2011;155 A(8):1996-2002.)mat and the related mechanisms need to be further studied.
方法:在病例1中,在6号染色体上发现了混合有异体性的母体同体性,包括6q23.3和6q27之间的区域杂合性缺失。在病例2中,纯合SCUBE3突变和upd(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)mat,发现涉及6p21.1-25.1区域。与upd相关的临床数据(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)垫子也被审查了。在所有21例报告的upd病例中(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)垫子(包括我们的2箱),18(85.7%)呈现IUGR。
结论:两名新发现的upd患者的表型(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)mat进一步表明IUGR与upd(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)mat和案例2是第一个报告的upd(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)患有纯合SCUBE3基因突变的患者。然而,UPD涉及的特定表型(CajaibaMM,WitchelS,Madan-KhetarpalS,胡佛·J,HoffnerL,MacphersonT,etal.产前诊断6三体解救导致父系UPD6具有新的胎盘发现。美国医学杂志A.2011;155A(8):1996-2002。)垫和相关机理需要进一步研究。