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Volumn 41, Issue 6, 2004, Pages 433-439

Molecular analysis of 20 patients with 2q37.3 monosomy: Definition of minimum deletion intervals for key phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

ALBRIGHT SYNDROME; ARTICLE; CHROMOSOME 2Q; CORRELATION ANALYSIS; DOSIMETRY; FEMALE; GENE DELETION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MONOSOMY; PHENOTYPE; PRIORITY JOURNAL;

EID: 2942703848     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.017202     Document Type: Article
Times cited : (85)

References (62)
  • 4
    • 0030916590 scopus 로고    scopus 로고
    • RDC1, the vasoactive intestinal peptide receptor: A candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37
    • Power MM, James RS, Barber JCK, Fisher AM, Wood PJ, Leatherdale BA, Flanagan DEH, Hatchwell E. RDC1, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J Med Genet 1997;34:287-90.
    • (1997) J Med Genet , vol.34 , pp. 287-290
    • Power, M.M.1    James, R.S.2    Barber, J.C.K.3    Fisher, A.M.4    Wood, P.J.5    Leatherdale, B.A.6    Flanagan, D.E.H.7    Hatchwell, E.8
  • 7
    • 0032794675 scopus 로고    scopus 로고
    • Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
    • Bijlsma EK, Aalfs CM, Sluijter S, Oude Luttikhuis MEM, Trembath RC, Hoovers JMN, Hennekam RCM. Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 1999;36:604-9.
    • (1999) J Med Genet , vol.36 , pp. 604-609
    • Bijlsma, E.K.1    Aalfs, C.M.2    Sluijter, S.3    Oude Luttikhuis, M.E.M.4    Trembath, R.C.5    Hoovers, J.M.N.6    Hennekam, R.C.M.7
  • 8
    • 24544447736 scopus 로고    scopus 로고
    • Two distinctively different phenotypes of 2q37 terminal deletion: Location of a gene on telomeric 2q37 mimicking Albright hereditary osteodystrophy/pseudohypoparathyroidism
    • Braddock BR, Shrimpton AE, Stein CS, Hoo JJ. Two distinctively different phenotypes of 2q37 terminal deletion: location of a gene on telomeric 2q37 mimicking Albright hereditary osteodystrophy/pseudohypoparathyroidism. Am J Hum Genet 1999;65:A861.
    • (1999) Am J Hum Genet , vol.65
    • Braddock, B.R.1    Shrimpton, A.E.2    Stein, C.S.3    Hoo, J.J.4
  • 9
    • 0032964922 scopus 로고    scopus 로고
    • Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs visceram
    • Reddy KS, Flannery D, Farrer RJ. Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs visceram. Am J Med Genet 1999;84:460-8.
    • (1999) Am J Med Genet , vol.84 , pp. 460-468
    • Reddy, K.S.1    Flannery, D.2    Farrer, R.J.3
  • 10
    • 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, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. 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    Escamilla, J.R.2    Filipek, P.3    Bocian, M.E.4    Modahl, C.5    Flodman, P.6    Spence, M.A.7
  • 15
    • 0141857855 scopus 로고    scopus 로고
    • Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)
    • Giardino D, Finelli P, Gottardi G, De Canal G, Monica MD, Lonardo F, Scarano G, Larizza L. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet 2003;122A:261-5.
    • (2003) Am J Med Genet , vol.122 A , pp. 261-265
    • Giardino, D.1    Finelli, P.2    Gottardi, G.3    De Canal, G.4    Monica, M.D.5    Lonardo, F.6    Scarano, G.7    Larizza, L.8
  • 17
    • 0027976080 scopus 로고
    • Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)
    • Wang TH, Johnston K, Hsieh CL, Dennery PA. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet 1994;49:399-401.
    • (1994) Am J Med Genet , vol.49 , pp. 399-401
    • Wang, T.H.1    Johnston, K.2    Hsieh, C.L.3    Dennery, P.A.4
  • 20
    • 24544473464 scopus 로고    scopus 로고
    • Significant hypotonia and developmental delay: Hallmarks of a terminal deletion of chromosome 2q
    • Ardinger HH, Persons DL, Lutz RE, Beattie MA. Significant hypotonia and developmental delay: hallmarks of a terminal deletion of chromosome 2q. Am J Hum Genet 1999;65:A853.
    • (1999) Am J Hum Genet , vol.65
    • Ardinger, H.H.1    Persons, D.L.2    Lutz, R.E.3    Beattie, M.A.4
  • 21
    • 0035709422 scopus 로고    scopus 로고
    • Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child
    • Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet 2001;9:881-6.
    • (2001) Eur J Hum Genet , vol.9 , pp. 881-886
    • Giardino, D.1    Finelli, P.2    Gottardi, G.3    Clerici, D.4    Mosca, F.5    Briscioli, V.6    Larizza, L.7
  • 22
    • 0032771690 scopus 로고    scopus 로고
    • Anterior chamber eye anomalies, redundant skin and syndactyly - A new syndrome associated with breakpoints at 2q37.2 and 7q36.3
    • Temple IK, Browne C, Hodgkins P. Anterior chamber eye anomalies, redundant skin and syndactyly - a new syndrome associated with breakpoints at 2q37.2 and 7q36.3. Clin Dysmorphol 1999;8:157-63.
    • (1999) Clin Dysmorphol , vol.8 , pp. 157-163
    • Temple, I.K.1    Browne, C.2    Hodgkins, P.3
  • 23
    • 0031899453 scopus 로고    scopus 로고
    • A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation
    • Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 1998;35:225-33.
    • (1998) J Med Genet , vol.35 , pp. 225-233
    • Ghaffari, S.R.1    Boyd, E.2    Tolmie, J.L.3    Crow, Y.J.4    Trainer, A.H.5    Connor, J.M.6
  • 24
    • 0345327682 scopus 로고    scopus 로고
    • Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions
    • Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions. Am J Med Genet 2003;123A:285-9.
    • (2003) Am J Med Genet , vol.123 A , pp. 285-289
    • Bruyere, H.1    Rajcan-Separovic, E.2    Doyle, J.3    Pantzar, T.4    Langlois, S.5
  • 27
    • 0034608441 scopus 로고    scopus 로고
    • Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
    • Bocino 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;92:250-5.
    • (2000) Am J Med Genet , vol.92 , pp. 250-255
    • Bocino, C.A.1    Kashork, C.D.2    Davino, N.A.3    Shaffer, L.G.4
  • 28
    • 0024405541 scopus 로고
    • Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)
    • Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet 1989;32:350-2.
    • (1989) Am J Med Genet , vol.32 , pp. 350-352
    • Gorski, J.L.1    Cox, B.A.2    Kyine, M.3    Uhlmann, W.4    Glover, T.W.5
  • 29
    • 0038750668 scopus 로고    scopus 로고
    • Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances
    • Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances. Am J Med Genet 2003;117A:57-64.
    • (2003) Am J Med Genet , vol.117 A , pp. 57-64
    • Daniel, A.1    Baker, E.2    Chia, N.3    Haan, E.4    Malafiej, P.5    Hinton, L.6    Clarke, N.7    Ades, L.8    Darmanian, A.9    Callen, D.10
  • 31
    • 0034726690 scopus 로고    scopus 로고
    • Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35→qter: Molecular cytogenetic analysis and clinical phenotype in two generations
    • Speleman F, Callens B, Logghe K, Van Roy N, Horsley SW, Jauch A, Verschraegen-Spae MR, Leroy JG. Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35→qter: molecular cytogenetic analysis and clinical phenotype in two generations. Am J Med Genet 2000;93:349-54.
    • (2000) Am J Med Genet , vol.93 , pp. 349-354
    • Speleman, F.1    Callens, B.2    Logghe, K.3    Van Roy, N.4    Horsley, S.W.5    Jauch, A.6    Verschraegen-Spae, M.R.7    Leroy, J.G.8
  • 32
    • 0036358010 scopus 로고    scopus 로고
    • Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion
    • Wolff DJ, Clifton K, Karr C, Charles J. Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med 2002;4:10-4.
    • (2002) Genet Med , vol.4 , pp. 10-14
    • Wolff, D.J.1    Clifton, K.2    Karr, C.3    Charles, J.4
  • 33
    • 0035341275 scopus 로고    scopus 로고
    • Holoprosencephaly associated with an apparent isolated 2q37. 1→2q37.3 deletion
    • Lehman NL, Zaleski DH, Sanger WG, Adickes E, eds. Holoprosencephaly associated with an apparent isolated 2q37. 1→2q37.3 deletion. Am J Med Genet 2001;100:179-81.
    • (2001) Am J Med Genet , vol.100 , pp. 179-181
    • Lehman, N.L.1    Zaleski, D.H.2    Sanger, W.G.3    Adickes, E.4
  • 34
    • 0034650292 scopus 로고    scopus 로고
    • Measurement of locus copy number by hybridisation with amplifiable probes
    • Armour JA, Sismani C, Patsalis PC, Cross G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 2000;28:605-9.
    • (2000) Nucleic Acids Res , vol.28 , pp. 605-609
    • Armour, J.A.1    Sismani, C.2    Patsalis, P.C.3    Cross, G.4
  • 36
    • 0033555906 scopus 로고    scopus 로고
    • Tandem repeats finder: A program to analyze DNA sequences
    • Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 1999;27:573-80.
    • (1999) Nucleic Acids Res , vol.27 , pp. 573-580
    • Benson, G.1
  • 38
    • 0033764929 scopus 로고    scopus 로고
    • The promise and pitfalls of telomere region-specific probes
    • Ballif BC, Kashork CD, Shaffer LG. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 2000;67:1356-9.
    • (2000) Am J Hum Genet , vol.67 , pp. 1356-1359
    • Ballif, B.C.1    Kashork, C.D.2    Shaffer, L.G.3
  • 39
    • 0028905182 scopus 로고
    • Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
    • Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995;56:1156-61.
    • (1995) Am J Hum Genet , vol.56 , pp. 1156-1161
    • Nickerson, E.1    Greenberg, F.2    Keating, M.T.3    McCaskill, C.4    Shaffer, L.G.5
  • 41
    • 0036362854 scopus 로고    scopus 로고
    • Molecular characterization of 18p deletions: Evidence far a breakpoint cluster
    • Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence far a breakpoint cluster. Genet Med 2002;4:15-9.
    • (2002) Genet Med , vol.4 , pp. 15-19
    • Schaub, R.L.1    Reveles, X.T.2    Baillargeon, J.3    Leach, R.J.4    Cody, J.D.5
  • 43
    • 0033949022 scopus 로고    scopus 로고
    • Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
    • Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000;8:519-26.
    • (2000) Eur J Hum Genet , vol.8 , pp. 519-526
    • Wieczorek, D.1    Krause, M.2    Majewski, F.3    Albrecht, B.4    Horn, D.5    Riess, O.6    Gillessen-Kaesbach, G.7
  • 48
    • 0033200284 scopus 로고    scopus 로고
    • LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients
    • Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 1999;60:218-25.
    • (1999) Genomics , vol.60 , pp. 218-225
    • Endele, S.1    Fuhry, M.2    Pak, S.J.3    Zabel, B.U.4    Winterpacht, A.5
  • 53
    • 0033766291 scopus 로고    scopus 로고
    • Human Dermo-1 has attributes similar to twist in early bone development
    • Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA. Human Dermo-1 has attributes similar to twist in early bone development. Bone 2000;27:591-602.
    • (2000) Bone , vol.27 , pp. 591-602
    • Lee, M.S.1    Lowe, G.2    Flanagan, S.3    Kuchler, K.4    Glackin, C.A.5
  • 56
    • 0036844229 scopus 로고    scopus 로고
    • Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
    • Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002;71:1017-32.
    • (2002) Am J Hum Genet , vol.71 , pp. 1017-1032
    • Ming, J.E.1    Muenke, M.2
  • 57
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000;10:597-610.
    • (2000) Genome Res , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 59
    • 0036591666 scopus 로고    scopus 로고
    • Molecular-evolutionary mechanisms for genomic disorders
    • Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 2002;12:312-9.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 312-319
    • Stankiewicz, P.1    Lupski, J.R.2


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