메뉴 건너뛰기




Volumn 519, Issue 1, 2013, Pages 164-168

Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization

Author keywords

2p25.3 deletion; 2q37.3 deletion; Lissencephaly; Ring chromosome 2

Indexed keywords

HISTONE DEACETYLASE 4;

EID: 84875382516     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.01.055     Document Type: Article
Times cited : (7)

References (26)
  • 1
    • 12944284660 scopus 로고    scopus 로고
    • A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: further support for "ring chromosome 2 syndrome"
    • Alkuraya F.S., Kimonis V.E., Holt L., Murata-Collins J.L. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: further support for "ring chromosome 2 syndrome". Am. J. Med. Genet. 2005, 132A:447-449.
    • (2005) Am. J. Med. Genet. , vol.132 A , pp. 447-449
    • Alkuraya, F.S.1    Kimonis, V.E.2    Holt, L.3    Murata-Collins, J.L.4
  • 2
    • 78149299463 scopus 로고    scopus 로고
    • Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan
    • Chen C.-P., et al. Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan. J. Obstet. Gynecol. 2010, 49:327-332.
    • (2010) J. Obstet. Gynecol. , vol.49 , pp. 327-332
    • Chen, C.-P.1
  • 3
    • 77954733555 scopus 로고    scopus 로고
    • Deletion 2q37.3→qter and duplication 15q24.3→qter characterized by array CGH in a girl with epilepsy and dysmorphic features
    • Chen C.-P., et al. Deletion 2q37.3→qter and duplication 15q24.3→qter characterized by array CGH in a girl with epilepsy and dysmorphic features. Genet. Couns. 2010, 21:263-267.
    • (2010) Genet. Couns. , vol.21 , pp. 263-267
    • Chen, C.-P.1
  • 4
    • 84862816915 scopus 로고    scopus 로고
    • Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. Taiwan
    • Chen C.-P., et al. Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. Taiwan. J. Obstet. Gynecol. 2012, 51:71-76.
    • (2012) J. Obstet. Gynecol. , vol.51 , pp. 71-76
    • Chen, C.-P.1
  • 5
    • 0019800346 scopus 로고
    • The cytogenetic and clinical implications of a ring chromosome 2
    • Cote G.B., Katsantoni A., Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann. Genet. 1981, 24:231-235.
    • (1981) Ann. Genet. , vol.24 , pp. 231-235
    • Cote, G.B.1    Katsantoni, A.2    Deligeorgis, D.3
  • 6
    • 17344393674 scopus 로고    scopus 로고
    • A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH
    • Dee S.L., Clark A.T., Willatt L.R., Yates J.R.W. A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J. Med. Genet. 2001, 38:e32.
    • (2001) J. Med. Genet. , vol.38
    • Dee, S.L.1    Clark, A.T.2    Willatt, L.R.3    Yates, J.R.W.4
  • 7
    • 77956103865 scopus 로고    scopus 로고
    • Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism
    • Devillard F., et al. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am. J. Med. Genet. 2010, 152A:2346-2354.
    • (2010) Am. J. Med. Genet. , vol.152 A , pp. 2346-2354
    • Devillard, F.1
  • 8
    • 84947046473 scopus 로고    scopus 로고
    • 2q37 microdeletion syndrome
    • University of Washington, Seattle, Seattle (WA), Updated 2013 Jan. 31. Available from: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.)
    • Doherty E.S., Lacbawan F. 2q37 microdeletion syndrome. GeneReviews [Internet] 2013, University of Washington, Seattle, Seattle (WA), Updated 2013 Jan. 31. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1116/. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
    • (2013) GeneReviews [Internet]
    • Doherty, E.S.1    Lacbawan, F.2
  • 10
    • 66849093887 scopus 로고    scopus 로고
    • FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome
    • Felder B., et al. FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am. J. Med. Genet. 2009, 149A:952-959.
    • (2009) Am. J. Med. Genet. , vol.149 A , pp. 952-959
    • Felder, B.1
  • 11
    • 84864100610 scopus 로고    scopus 로고
    • Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability
    • Iqbal Z., et al. Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability. Arch. Med. Res. 2012, 43:312-316.
    • (2012) Arch. Med. Res. , vol.43 , pp. 312-316
    • Iqbal, Z.1
  • 13
    • 16444366081 scopus 로고    scopus 로고
    • "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes
    • Kosho T., et al. "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes. Genet. Couns. 2005, 16:65-70.
    • (2005) Genet. Couns. , vol.16 , pp. 65-70
    • Kosho, T.1
  • 15
    • 84886900988 scopus 로고    scopus 로고
    • The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
    • Leroy C., et al. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur. J. Hum. Genet. 2012, 10.1038/ejhg.2012.230.
    • (2012) Eur. J. Hum. Genet.
    • Leroy, C.1
  • 16
    • 0018324976 scopus 로고
    • Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation
    • Maraschio P., Danesino C., Garau A., Saputo V., Vigi V., Volpato S. Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation. Hum. Genet. 1979, 48:157-167.
    • (1979) Hum. Genet. , vol.48 , pp. 157-167
    • Maraschio, P.1    Danesino, C.2    Garau, A.3    Saputo, V.4    Vigi, V.5    Volpato, S.6
  • 17
    • 84864122993 scopus 로고    scopus 로고
    • Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome
    • Morris B., et al. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am. J. Med. Genet. 2012, 158A:2015-2020.
    • (2012) Am. J. Med. Genet. , vol.158 A , pp. 2015-2020
    • Morris, B.1
  • 18
    • 84879738876 scopus 로고    scopus 로고
    • Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
    • Rio M., et al. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. Clin. Genet. 2012, 10.1111/cge.12036.
    • (2012) Clin. Genet.
    • Rio, M.1
  • 19
    • 0034761970 scopus 로고    scopus 로고
    • Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR
    • Smith M., et al. Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR. Cytogenet. Cell Genet. 2001, 94:15-22.
    • (2001) Cytogenet. Cell Genet. , vol.94 , pp. 15-22
    • Smith, M.1
  • 20
    • 80054902008 scopus 로고    scopus 로고
    • MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
    • Stevens S.J.C., et al. MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. Am. J. Med. Genet. 2011, 155A:2739-2745.
    • (2011) Am. J. Med. Genet. , vol.155 A , pp. 2739-2745
    • Stevens, S.J.C.1
  • 21
    • 84863876701 scopus 로고    scopus 로고
    • Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly. Taiwan
    • Sung P.-L., et al. Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly. Taiwan. J. Obstet. Gynecol. 2012, 51:260-265.
    • (2012) J. Obstet. Gynecol. , vol.51 , pp. 260-265
    • Sung, P.-L.1
  • 22
    • 0018172172 scopus 로고
    • 46, XX/46, XX, r[2][p25q37] mosaicism: clinical and cytogenetic studies
    • Sutherland G.R., Carter R.F. 46, XX/46, XX, r[2][p25q37] mosaicism: clinical and cytogenetic studies. Ann. Genet. 1978, 21:164-167.
    • (1978) Ann. Genet. , vol.21 , pp. 164-167
    • Sutherland, G.R.1    Carter, R.F.2
  • 23
    • 84862809700 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. Taiwan
    • Tan S.-J., et al. Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. Taiwan. J. Obstet. Gynecol. 2012, 51:109-111.
    • (2012) J. Obstet. Gynecol. , vol.51 , pp. 109-111
    • Tan, S.-J.1
  • 24
    • 0019165943 scopus 로고
    • Ring chromosome 2 in a child with growth failure and few congenital abnormalities
    • Vigfusson N.V., Kapstafer K.J., Lloyd M.A. Ring chromosome 2 in a child with growth failure and few congenital abnormalities. Am. J. Med. Genet. 1980, 7:383-389.
    • (1980) Am. J. Med. Genet. , vol.7 , pp. 383-389
    • Vigfusson, N.V.1    Kapstafer, K.J.2    Lloyd, M.A.3
  • 25
    • 77955584378 scopus 로고    scopus 로고
    • Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
    • Williams S.R., et al. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am. J. Hum. Genet. 2010, 87:219-228.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 219-228
    • Williams, S.R.1
  • 26
    • 0019901038 scopus 로고
    • Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange
    • Wyandt H.E., Kasprzak R., Lamb A., Willson K., Wilson W.G., Kelly T.E. Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet. Cell Genet. 1982, 33:222-231.
    • (1982) Cytogenet. Cell Genet. , vol.33 , pp. 222-231
    • Wyandt, H.E.1    Kasprzak, R.2    Lamb, A.3    Willson, K.4    Wilson, W.G.5    Kelly, T.E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.