染色体微阵列分析技术对1例毛发-鼻-指(趾)综合征的产前诊断
摘要
<正>毛发-鼻-指(趾)综合征(tricho-rhino-phalangeal syndrome,TRPS)是一种以毛发稀疏、梨型鼻、部分指、趾骨锥形骨骺和短指(趾)畸形等为特征的常染色体显性罕见遗传病,由Giedion于1966年首次报告。根据临床表型和基因型可分为3个亚型:TRPSⅠ型主要由TRPS1基因点突变所致,有上述典型的毛发、面容及骨骼改变[1]; TRPSⅡ型又称
引文
[1] Fujisawa T,Fukao T,Shimomura Y,et al. A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1[J]. J Dermatol,2014,41(6):514-517.
[2] Ruiz-Botero F,Pachajoa H. Langer-Giedion syndrome with 8q23. 1-q24. 12 deletion diagnosed by comparative genomic hybridization[J]. Arch Argent Pediatr,2016,114(4):e228-232.
[3] Chen CP,Lin MH,Chen YY,et al. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23. 3-q24. 11 and 8q24. 13 associated with Langer-Giedion syndrome,Cornelia de Lange syndrome and haploinsufficiency of TRPS1,RAD21 and EXT1[J]. Taiwan J Obstet Gynecol,2015,54(5):592-596.
[4] Schinzel A,Riegel M,Baumer A,et al. Long-term follow-up of four patients with Langer-Giedion syndrome:clinical course and complications[J]. Am J Med Genet A,2013,161A(9):2216-2225.
[5] Itoh M,Kittaka Y,Niida Y,et al. A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome typeⅠandⅢin a Japanese family[J]. Clin Pediatr Endocrinol,2016,25(3):115-118.
[6] Piccione M,Niceta M,Antona V,et al. Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome typeⅠandⅢ[J]. Am J Med Genet A,2009,149A(8):1837-1841.
[7] Momeni P,Glockner G,Schmidt O,et al. Mutations in a new gene,encoding a zinc-finger protein,cause tricho-rhino-phalangeal syndrome type I[J]. Nat Genet,2000,24(1):71-74.
[8] Ludecke HJ,Schaper J,Meinecke P,et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome typesⅠandⅢ[J]. Am J Hum Genet,2001,68(1):81-91.
[9] Chen LH,Ning CC,Chao SC. Mutations in TRPS1 gene in trichorhinophalangeal syndrome typeⅠin Asian patients[J]. Br J Dermatol,2010,163(2):416-419.
[10] Maas SM,Shaw AC,Bikker H,et al. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome[J]. Eur J Med Genet,2015,58(5):279-292.
[11] Carvalho DR,Santos SC,Oliveira MD,et al. Tibial hemimelia in Langer-Giedion syndrome with 8q23. 1-q24. 12 interstitial deletion[J]. Am J Med Genet A,2011,155A(11):2784-2787.
[12] Chen CP,Lin SP,Liu YP,et al. An interstitial deletion of 8q23. 3-q24. 22 associated with Langer-Giedion syndrome,Cornelia de Lange syndrome and epilepsy[J]. Gene,2013,529(1):176-180.
[13] Sendi-Naderi A,Ludecke HJ,Unger S,et al. A familial case of tricho-rhino-phalangeal syndrome typeⅢwith a novel missense mutation in exon 6 of the TRPS1 gene[J]. J Eur Acad Dermatol Venereol,2010,24(5):612-614.
[2] Ruiz-Botero F,Pachajoa H. Langer-Giedion syndrome with 8q23. 1-q24. 12 deletion diagnosed by comparative genomic hybridization[J]. Arch Argent Pediatr,2016,114(4):e228-232.
[3] Chen CP,Lin MH,Chen YY,et al. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23. 3-q24. 11 and 8q24. 13 associated with Langer-Giedion syndrome,Cornelia de Lange syndrome and haploinsufficiency of TRPS1,RAD21 and EXT1[J]. Taiwan J Obstet Gynecol,2015,54(5):592-596.
[4] Schinzel A,Riegel M,Baumer A,et al. Long-term follow-up of four patients with Langer-Giedion syndrome:clinical course and complications[J]. Am J Med Genet A,2013,161A(9):2216-2225.
[5] Itoh M,Kittaka Y,Niida Y,et al. A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome typeⅠandⅢin a Japanese family[J]. Clin Pediatr Endocrinol,2016,25(3):115-118.
[6] Piccione M,Niceta M,Antona V,et al. Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome typeⅠandⅢ[J]. Am J Med Genet A,2009,149A(8):1837-1841.
[7] Momeni P,Glockner G,Schmidt O,et al. Mutations in a new gene,encoding a zinc-finger protein,cause tricho-rhino-phalangeal syndrome type I[J]. Nat Genet,2000,24(1):71-74.
[8] Ludecke HJ,Schaper J,Meinecke P,et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome typesⅠandⅢ[J]. Am J Hum Genet,2001,68(1):81-91.
[9] Chen LH,Ning CC,Chao SC. Mutations in TRPS1 gene in trichorhinophalangeal syndrome typeⅠin Asian patients[J]. Br J Dermatol,2010,163(2):416-419.
[10] Maas SM,Shaw AC,Bikker H,et al. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome[J]. Eur J Med Genet,2015,58(5):279-292.
[11] Carvalho DR,Santos SC,Oliveira MD,et al. Tibial hemimelia in Langer-Giedion syndrome with 8q23. 1-q24. 12 interstitial deletion[J]. Am J Med Genet A,2011,155A(11):2784-2787.
[12] Chen CP,Lin SP,Liu YP,et al. An interstitial deletion of 8q23. 3-q24. 22 associated with Langer-Giedion syndrome,Cornelia de Lange syndrome and epilepsy[J]. Gene,2013,529(1):176-180.
[13] Sendi-Naderi A,Ludecke HJ,Unger S,et al. A familial case of tricho-rhino-phalangeal syndrome typeⅢwith a novel missense mutation in exon 6 of the TRPS1 gene[J]. J Eur Acad Dermatol Venereol,2010,24(5):612-614.