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Volumn 51, Issue 5, 2009, Pages 453-459

Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies

Author keywords

Fluorescence in situ hybridization; Mental retardation; Subtelomeric FISH

Indexed keywords

ANTERIOR FONTANEL; ARTICLE; BODY HEIGHT; BODY WEIGHT; CERVICAL SPINE; CHILD; CHROMOSOME 3Q; CHROMOSOME 9P; CHROMOSOME 9Q; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CLEFT PALATE; CLINODACTYLY; EAR DYSPLASIA; EPICANTHUS; EYE MALFORMATION; FACE DYSMORPHIA; FEMALE; FLATFOOT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC SCREENING; GENITAL MALFORMATION; HEAD CIRCUMFERENCE; HUMAN; HYDROCEPHALUS; HYPERPHAGIA; HYPERTELORISM; INTELLIGENCE QUOTIENT; KARYOTYPE; LIMB MALFORMATION; LOW SET EAR; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROGNATHIA; MITRAL VALVE REGURGITATION; NAIL DISEASE; NAIL HYPOPLASIA; NECK MALFORMATION; NOSE MALFORMATION; PALATE MALFORMATION; PALPEBRAL FISSURE; PHENOTYPE; PIGEON THORAX; SIBLING; TELOMERE; THUMB MALFORMATION; TOE MALFORMATION; TRISOMY; UMBILICAL HERNIA; VERTEBRA MALFORMATION;

EID: 76149103233     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (31)
  • 1
    • 33644829309 scopus 로고    scopus 로고
    • Prevalence of four developmental disabilities among children aged 8 years-Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1996 and 2000
    • Bhasin TK, Brocksen S, Avchen RN, Van Naarden Braun K. Prevalence of four developmental disabilities among children aged 8 years-Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1996 and 2000. MMWR Surveill Summ 2006; 55: 1-9.
    • (2006) MMWR Surveill Summ , vol.55 , pp. 1-9
    • Bhasin, T.K.1    Brocksen, S.2    Avchen, R.N.3    Van Naarden Braun, K.4
  • 2
    • 0032901062 scopus 로고    scopus 로고
    • Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
    • Slavotinek A, Rosenberg M, Knight S, et al. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 1999; 36: 405-411.
    • (1999) J Med Genet , vol.36 , pp. 405-411
    • Slavotinek, A.1    Rosenberg, M.2    Knight, S.3
  • 3
    • 0035173443 scopus 로고    scopus 로고
    • Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH
    • Joyce CA, Dennis NR, Cooper S, Browne CE. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum Genet 2001; 109: 440-451.
    • (2001) Hum Genet , vol.109 , pp. 440-451
    • Joyce, C.A.1    Dennis, N.R.2    Cooper, S.3    Browne, C.E.4
  • 4
    • 76149116957 scopus 로고    scopus 로고
    • Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1p ter, 2q ter, 4p ter, 5q ter and 9q ter
    • Sogaard M, Tümer Z, Hjalgrim H, et al. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1p ter, 2q ter, 4p ter, 5q ter and 9q ter. BMC Med Genet 2006; 17: 6-21.
    • (2006) BMC Med Genet , vol.17 , pp. 6-21
    • Sogaard, M.1    Tümer, Z.2    Hjalgrim, H.3
  • 5
    • 33745226965 scopus 로고    scopus 로고
    • Subtelomere FISH analysis of 11,688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
    • Ravnan JB, Tepperberg JH, Papenhausen P, et al. Subtelomere FISH analysis of 11,688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006; 43: 478-489.
    • (2006) J Med Genet , vol.43 , pp. 478-489
    • Ravnan, J.B.1    Tepperberg, J.H.2    Papenhausen, P.3
  • 6
    • 0035083998 scopus 로고    scopus 로고
    • Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
    • de Vries BB, White SM, Knight SJ, et al. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001; 38: 145-150.
    • (2001) J Med Genet , vol.38 , pp. 145-150
    • de Vries, B.B.1    White, S.M.2    Knight, S.J.3
  • 7
    • 11144354654 scopus 로고    scopus 로고
    • Genomic imbalance in mental retardation
    • Kriek M, White SJ, Bouma MC, et al. Genomic imbalance in mental retardation. J Med Genet 2004; 41: 249-255.
    • (2004) J Med Genet , vol.41 , pp. 249-255
    • Kriek, M.1    White, S.J.2    Bouma, M.C.3
  • 8
    • 76149142253 scopus 로고    scopus 로고
    • Saffer LG, Tommerup N. ISCN: An International System for Human Cytogenetic Nomenclature. Basel: Karger; 2005.
    • Saffer LG, Tommerup N. ISCN: An International System for Human Cytogenetic Nomenclature. Basel: Karger; 2005.
  • 9
    • 0034608441 scopus 로고    scopus 로고
    • Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
    • Bacino CA, Kashork CD, Davino NA, Shaffer LG. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet 2000; 92: 2250-2255.
    • (2000) Am J Med Genet , vol.92 , pp. 2250-2255
    • Bacino, C.A.1    Kashork, C.D.2    Davino, N.A.3    Shaffer, L.G.4
  • 10
    • 18244367159 scopus 로고    scopus 로고
    • Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
    • Baker E, Hinton L, Callen DF, et al. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 2002; 107: 285-293.
    • (2002) Am J Med Genet , vol.107 , pp. 285-293
    • Baker, E.1    Hinton, L.2    Callen, D.F.3
  • 11
    • 22444451052 scopus 로고    scopus 로고
    • Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features
    • Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features. Genet Couns 2005; 16: 129-138.
    • (2005) Genet Couns , vol.16 , pp. 129-138
    • Caliskan, M.O.1    Karauzum, S.B.2    Mihci, E.3    Tacoy, S.4    Luleci, G.5
  • 12
    • 50449102211 scopus 로고    scopus 로고
    • Screening of subtelomeric rearrangements in 100 Korean pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization)
    • Park HK, Kim HJ, Kim HJ, et al. Screening of subtelomeric rearrangements in 100 Korean pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization). J Korean Med Sci 2008; 23: 573-578.
    • (2008) J Korean Med Sci , vol.23 , pp. 573-578
    • Park, H.K.1    Kim, H.J.2    Kim, H.J.3
  • 13
    • 0030870848 scopus 로고    scopus 로고
    • Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
    • Shapira SK, McCaskill C, Northrup H, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997; 61: 642-650.
    • (1997) Am J Hum Genet , vol.61 , pp. 642-650
    • Shapira, S.K.1    McCaskill, C.2    Northrup, H.3
  • 14
    • 0038406165 scopus 로고    scopus 로고
    • Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    • Heilstedt HA, Ballif BC, Howard LA, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003; 72: 1200-1212.
    • (2003) Am J Hum Genet , vol.72 , pp. 1200-1212
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3
  • 15
    • 0029817911 scopus 로고    scopus 로고
    • Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis
    • Blennow E, Bui TH, Wallin A, Kogner P. Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. Am J Med Genet 1996; 65: 60-67.
    • (1996) Am J Med Genet , vol.65 , pp. 60-67
    • Blennow, E.1    Bui, T.H.2    Wallin, A.3    Kogner, P.4
  • 16
    • 0033613986 scopus 로고    scopus 로고
    • Terminal deletion, del(1) (p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
    • Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Terminal deletion, del(1) (p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet 1999; 82: 249-253.
    • (1999) Am J Med Genet , vol.82 , pp. 249-253
    • Riegel, M.1    Castellan, C.2    Balmer, D.3    Brecevic, L.4    Schinzel, A.5
  • 17
    • 0034979654 scopus 로고    scopus 로고
    • Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
    • Rossi E, Piccini F, Zollino M, et al. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001; 38: 417-420.
    • (2001) J Med Genet , vol.38 , pp. 417-420
    • Rossi, E.1    Piccini, F.2    Zollino, M.3
  • 18
    • 20544435269 scopus 로고    scopus 로고
    • 3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome
    • Willatt L, Cox J, Barber J, et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005; 77: 154-160.
    • (2005) Am J Hum Genet , vol.77 , pp. 154-160
    • Willatt, L.1    Cox, J.2    Barber, J.3
  • 19
    • 33748202535 scopus 로고    scopus 로고
    • A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions
    • Baynam G, Goldblatt J, Townshend S. A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions. Clin Dysmorphol 2006; 15: 145-148.
    • (2006) Clin Dysmorphol , vol.15 , pp. 145-148
    • Baynam, G.1    Goldblatt, J.2    Townshend, S.3
  • 20
    • 44449161472 scopus 로고    scopus 로고
    • Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype
    • Swinkels ME, Simons A, Smeets DF, et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype. Am J Med Genet A 2008; 146A: 1430-1438.
    • (2008) Am J Med Genet A , vol.146 A , pp. 1430-1438
    • Swinkels, M.E.1    Simons, A.2    Smeets, D.F.3
  • 22
    • 20244368362 scopus 로고    scopus 로고
    • Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
    • Kleefstra T, Smidt M, Banning MJ, et al. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 2005; 42: 299-306.
    • (2005) J Med Genet , vol.42 , pp. 299-306
    • Kleefstra, T.1    Smidt, M.2    Banning, M.J.3
  • 23
    • 19944432789 scopus 로고    scopus 로고
    • Three patients with terminal deletions with the subtelomeric region of chromosome 9q
    • Neas KR, Smith JM, Chia N, et al. Three patients with terminal deletions with the subtelomeric region of chromosome 9q. Am J Med Genet 2005; 132A: 425-430.
    • (2005) Am J Med Genet , vol.132 A , pp. 425-430
    • Neas, K.R.1    Smith, J.M.2    Chia, N.3
  • 24
    • 0028947055 scopus 로고
    • Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
    • Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 1995; 56: 1162-1172.
    • (1995) Am J Hum Genet , vol.56 , pp. 1162-1172
    • Church, D.M.1    Bengtsson, U.2    Nielsen, K.V.3    Wasmuth, J.J.4    Niebuhr, E.5
  • 25
    • 0033527728 scopus 로고    scopus 로고
    • Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome
    • Avansino JR, Dennis TR, Spallone P, Stock AD, Levin ML. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. Am J Med Genet 1999; 87: 6-11.
    • (1999) Am J Med Genet , vol.87 , pp. 6-11
    • Avansino, J.R.1    Dennis, T.R.2    Spallone, P.3    Stock, A.D.4    Levin, M.L.5
  • 27
    • 25644446165 scopus 로고    scopus 로고
    • Detection of an unexpected subtelomeric 15q26.2→ qter deletion in a little girl: Clinical and cytogenetic studies
    • Pinson L, Perrin A, Plouzennec C, et al. Detection of an unexpected subtelomeric 15q26.2→ qter deletion in a little girl: clinical and cytogenetic studies. Am J Med Genet A 2005; 138: 160-165.
    • (2005) Am J Med Genet A , vol.138 , pp. 160-165
    • Pinson, L.1    Perrin, A.2    Plouzennec, C.3
  • 28
    • 0027432978 scopus 로고
    • Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion
    • Kulharya AS, Schneider NR, Wilson GN. Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion. Am J Med Genet 1993; 47: 817-819.
    • (1993) Am J Med Genet , vol.47 , pp. 817-819
    • Kulharya, A.S.1    Schneider, N.R.2    Wilson, G.N.3
  • 29
    • 0029854179 scopus 로고    scopus 로고
    • Trisomy 10p: Report of an unusual mechanism of formation and critical evaluation of the clinical phenotype
    • Clement SJ, Leppig KA, Jarvik GP, Kapur RP, Norwood TH. Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. Am J Med Genet 1996; 65: 197-204.
    • (1996) Am J Med Genet , vol.65 , pp. 197-204
    • Clement, S.J.1    Leppig, K.A.2    Jarvik, G.P.3    Kapur, R.P.4    Norwood, T.H.5
  • 30
    • 0006663184 scopus 로고
    • A partial 10p trisomy: 46, rec(10), dup p, inv(10)(p13q26) pat
    • Nomoto N, Nagauchi O. A partial 10p trisomy: 46, rec(10), dup p, inv(10)(p13q26) pat. Jpn J Hum Genet 1979; 24: 165A.
    • (1979) Jpn J Hum Genet , vol.24
    • Nomoto, N.1    Nagauchi, O.2


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