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Volumn 51, Issue 1, 2012, Pages 93-99

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes

Author keywords

Chromosome 10 deletion; Chromosome 7 duplication; Monosomy 10q; Rapid aneuploidy diagnosis; Trisomy 7q; Uncultured amniocytes

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GESTATIONAL AGE; HUMAN; KARYOTYPE; PARTIAL MONOSOMY; PARTIAL TRISOMY; PREGNANCY TERMINATION;

EID: 84862801596     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.01.019     Document Type: Article
Times cited : (8)

References (43)
  • 1
    • 77949498196 scopus 로고    scopus 로고
    • Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes
    • Chen C.-P., Su Y.-N., Tsai F.-J., Lin H.-H., Chern S.-R., Lee M.-S., et al. Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes. Taiwan J Obstet Gynecol 2009, 48:441-445.
    • (2009) Taiwan J Obstet Gynecol , vol.48 , pp. 441-445
    • Chen, C.-P.1    Su, Y.-N.2    Tsai, F.-J.3    Lin, H.-H.4    Chern, S.-R.5    Lee, M.-S.6
  • 2
    • 77953266539 scopus 로고    scopus 로고
    • Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array CGH in pregnancy with abnormal ultrasound findings detected in late second and third trimesters
    • Chen C.-P., Su Y.-N., Tsai F.-J., Chern S.-R., Hsu C.-Y., Huang M.-C., et al. Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array CGH in pregnancy with abnormal ultrasound findings detected in late second and third trimesters. Taiwan J Obstet Gynecol 2010, 49:120-123.
    • (2010) Taiwan J Obstet Gynecol , vol.49 , pp. 120-123
    • Chen, C.-P.1    Su, Y.-N.2    Tsai, F.-J.3    Chern, S.-R.4    Hsu, C.-Y.5    Huang, M.-C.6
  • 3
    • 79953805632 scopus 로고    scopus 로고
    • Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations
    • Chen C.-P., Su Y.-N., Lin S.-Y., Chang C.-L., Wang Y.-L., Huang J.-P., et al. Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations. Taiwan J Obstet Gynecol 2011, 50:85-94.
    • (2011) Taiwan J Obstet Gynecol , vol.50 , pp. 85-94
    • Chen, C.-P.1    Su, Y.-N.2    Lin, S.-Y.3    Chang, C.-L.4    Wang, Y.-L.5    Huang, J.-P.6
  • 4
    • 28644446258 scopus 로고    scopus 로고
    • American College of Medical Genetics Professional Practice and Guidelines Committee. American college of medical genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
    • Shaffer L.G. American College of Medical Genetics Professional Practice and Guidelines Committee. American college of medical genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med 2005, 7:650-654.
    • (2005) Genet Med , vol.7 , pp. 650-654
    • Shaffer, L.G.1
  • 5
    • 0028798545 scopus 로고
    • The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
    • Flint J., Wilkie A.O., Buckle V.J., Winter R.M., Holland A.J., McDermid H.E. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995, 9:132-140.
    • (1995) Nat Genet , vol.9 , pp. 132-140
    • Flint, J.1    Wilkie, A.O.2    Buckle, V.J.3    Winter, R.M.4    Holland, A.J.5    McDermid, H.E.6
  • 6
    • 0029736830 scopus 로고    scopus 로고
    • The genetics of mental retardation
    • Flint J., Wilkie A.O. The genetics of mental retardation. Br Med Bull 1996, 52:453-464.
    • (1996) Br Med Bull , vol.52 , pp. 453-464
    • Flint, J.1    Wilkie, A.O.2
  • 7
    • 84856727922 scopus 로고    scopus 로고
    • Abnormal mental development
    • Churchill-Livingstone, London, D.L. Rimoin, M. Connor, R.E. Pyeritz, B.R. Korf (Eds.)
    • Raymond G.V. Abnormal mental development. Emery and Rimoin's principles and practice of medical genetics 2007, 931-947. Churchill-Livingstone, London. D.L. Rimoin, M. Connor, R.E. Pyeritz, B.R. Korf (Eds.).
    • (2007) Emery and Rimoin's principles and practice of medical genetics , pp. 931-947
    • Raymond, G.V.1
  • 8
    • 0033552424 scopus 로고    scopus 로고
    • Subtle chromosomal rearrangements in children with unexplained mental retardation
    • Knight S.J.L., Regan R., Nicod A., Horsley S.W., Kearney L., Homfray T., et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999, 354:1676-1681.
    • (1999) Lancet , vol.354 , pp. 1676-1681
    • Knight, S.J.L.1    Regan, R.2    Nicod, A.3    Horsley, S.W.4    Kearney, L.5    Homfray, T.6
  • 9
    • 77951959366 scopus 로고    scopus 로고
    • Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
    • Wu Y., Ji T., Wang J., Xiao J., Wang H., Li J., et al. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet 2010, 11:72.
    • (2010) BMC Med Genet , vol.11 , pp. 72
    • Wu, Y.1    Ji, T.2    Wang, J.3    Xiao, J.4    Wang, H.5    Li, J.6
  • 10
    • 33745314874 scopus 로고    scopus 로고
    • American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays
    • Moeschler J.B., Shevell M. American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006, 117:2304-2316.
    • (2006) Pediatrics , vol.117 , pp. 2304-2316
    • Moeschler, J.B.1    Shevell, M.2
  • 14
    • 0025766234 scopus 로고
    • The partial monosomy 10q syndrome: report on two patients and review of the developmental data
    • Schrander-Stumpel C., Fryns J.P., Hamers G. The partial monosomy 10q syndrome: report on two patients and review of the developmental data. J Ment Defic Res 1991, 135:259-267.
    • (1991) J Ment Defic Res , vol.135 , pp. 259-267
    • Schrander-Stumpel, C.1    Fryns, J.P.2    Hamers, G.3
  • 15
    • 0024357556 scopus 로고
    • Terminal deletion of the long arm of chromosome 10: case report and review of the literature
    • Gorinati M., Zamboni G., Padoin N., Dodero A., Caufin D., Memo L. Terminal deletion of the long arm of chromosome 10: case report and review of the literature. Am J Med Genet 1989, 33:502-504.
    • (1989) Am J Med Genet , vol.33 , pp. 502-504
    • Gorinati, M.1    Zamboni, G.2    Padoin, N.3    Dodero, A.4    Caufin, D.5    Memo, L.6
  • 16
    • 0027198809 scopus 로고
    • Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review
    • Wilkie A.O.M., Campbell F.M., Daubeney P., Grant D.B., Daniels R.J., Mullarkey M., et al. Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review. Am J Med Genet 1993, 46:597-600.
    • (1993) Am J Med Genet , vol.46 , pp. 597-600
    • Wilkie, A.O.M.1    Campbell, F.M.2    Daubeney, P.3    Grant, D.B.4    Daniels, R.J.5    Mullarkey, M.6
  • 17
    • 0032574640 scopus 로고    scopus 로고
    • Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3
    • Petersen B., Strassburg H.-M., Feichtinger W., Kress W., Schmid M. Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3. Am J Med Genet 1998, 77:60-62.
    • (1998) Am J Med Genet , vol.77 , pp. 60-62
    • Petersen, B.1    Strassburg, H.-M.2    Feichtinger, W.3    Kress, W.4    Schmid, M.5
  • 18
    • 0032446794 scopus 로고    scopus 로고
    • Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes
    • Petit P., Devriendt K., Azou M., Gewillig M., Fryns J.P. Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes. Genet Couns 1998, 9:271-275.
    • (1998) Genet Couns , vol.9 , pp. 271-275
    • Petit, P.1    Devriendt, K.2    Azou, M.3    Gewillig, M.4    Fryns, J.P.5
  • 19
    • 0032885399 scopus 로고    scopus 로고
    • Terminal deletion of chromosome 10q: clinical features and literature review
    • Tanabe S., Akiba T., Katoh M., Satoh T. Terminal deletion of chromosome 10q: clinical features and literature review. Pediatr Int 1999, 41:565-567.
    • (1999) Pediatr Int , vol.41 , pp. 565-567
    • Tanabe, S.1    Akiba, T.2    Katoh, M.3    Satoh, T.4
  • 21
    • 0034645517 scopus 로고    scopus 로고
    • Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: overlap with Coffin-Lowry syndrome
    • McCandless S.E., Schwartz S., Morrison S., Garlapati K., Robin N.H. Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: overlap with Coffin-Lowry syndrome. Am J Med Genet 2000, 5:93-98.
    • (2000) Am J Med Genet , vol.5 , pp. 93-98
    • McCandless, S.E.1    Schwartz, S.2    Morrison, S.3    Garlapati, K.4    Robin, N.H.5
  • 22
    • 0033673024 scopus 로고    scopus 로고
    • Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
    • Ogata T., Muroya K., Sasagawa I., Kosho T., Wakui K., Sakazume S., et al. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 2000, 58:2281-2290.
    • (2000) Kidney Int , vol.58 , pp. 2281-2290
    • Ogata, T.1    Muroya, K.2    Sasagawa, I.3    Kosho, T.4    Wakui, K.5    Sakazume, S.6
  • 23
  • 24
    • 0242426672 scopus 로고    scopus 로고
    • Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases
    • Irving M., Hanson H., Turnpenny P., Brewer C., Ogilvie C.M., Davies A., et al. Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet 2003, 123A:153-163.
    • (2003) Am J Med Genet , vol.123 A , pp. 153-163
    • Irving, M.1    Hanson, H.2    Turnpenny, P.3    Brewer, C.4    Ogilvie, C.M.5    Davies, A.6
  • 26
    • 21844463593 scopus 로고    scopus 로고
    • Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia
    • Chen C.-P., Chern S.-R., Wang T.-H., Hsueh D.-W., Lee C.-C., Town D.-D., et al. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia. Prenat Diagn 2005, 25:492-496.
    • (2005) Prenat Diagn , vol.25 , pp. 492-496
    • Chen, C.-P.1    Chern, S.-R.2    Wang, T.-H.3    Hsueh, D.-W.4    Lee, C.-C.5    Town, D.-D.6
  • 27
    • 31544472673 scopus 로고    scopus 로고
    • Association of the calcyon gene (DRD1IP) with attention deficit/hyperactivity disorder
    • Laurin N., Misener V.L., Crosbie J., Ickowicz A., Pathare T., Roberts W., et al. Association of the calcyon gene (DRD1IP) with attention deficit/hyperactivity disorder. Mol Psychiatry 2005, 10:1117-1125.
    • (2005) Mol Psychiatry , vol.10 , pp. 1117-1125
    • Laurin, N.1    Misener, V.L.2    Crosbie, J.3    Ickowicz, A.4    Pathare, T.5    Roberts, W.6
  • 28
    • 32444435911 scopus 로고    scopus 로고
    • A subterminal deletion of the long arm of chromosome 10: a clinical report and review
    • Courtens W., Wuyts W., Rooms L., Pera S.B., Wauters J. A subterminal deletion of the long arm of chromosome 10: a clinical report and review. Am J Med Genet 2006, 140A:402-409.
    • (2006) Am J Med Genet , vol.140 A , pp. 402-409
    • Courtens, W.1    Wuyts, W.2    Rooms, L.3    Pera, S.B.4    Wauters, J.5
  • 29
    • 51449107118 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: evidence for a new critical region for genital development
    • Mardo V., Squibb E.E., Braverman N., Hoover-Fong J.E., Migeon C., Batista D.A., et al. Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: evidence for a new critical region for genital development. Am J Med Genet 2008, 146A:2293-2297.
    • (2008) Am J Med Genet , vol.146 A , pp. 2293-2297
    • Mardo, V.1    Squibb, E.E.2    Braverman, N.3    Hoover-Fong, J.E.4    Migeon, C.5    Batista, D.A.6
  • 30
    • 50249094559 scopus 로고    scopus 로고
    • Urinary retention in a boy with terminal deletion of chromosome 10q at band 26.1
    • Motoyama O., Tokuyama M., Uga N., Iitaka K. Urinary retention in a boy with terminal deletion of chromosome 10q at band 26.1. Pediatr Int 2008, 50:603-604.
    • (2008) Pediatr Int , vol.50 , pp. 603-604
    • Motoyama, O.1    Tokuyama, M.2    Uga, N.3    Iitaka, K.4
  • 31
    • 67650908148 scopus 로고    scopus 로고
    • Identification of critical regions for clinical features of distal 10q deletion syndrome
    • Yatsenko S.A., Kruer M.C., Bader P.I., Corzo D., Schuette J., Keegan C.E., et al. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet 2009, 76:54-62.
    • (2009) Clin Genet , vol.76 , pp. 54-62
    • Yatsenko, S.A.1    Kruer, M.C.2    Bader, P.I.3    Corzo, D.4    Schuette, J.5    Keegan, C.E.6
  • 32
    • 0029926307 scopus 로고    scopus 로고
    • DOCK180, a major CRK-binding protein, alters cell morphology upon translocation to the membrane
    • Hasegawa H., Kiyokawa E., Tanaka S., Nagashima K., Gotoh N., Shibuya M., et al. DOCK180, a major CRK-binding protein, alters cell morphology upon translocation to the membrane. Mol Cell Biol 1996, 16:1770-1776.
    • (1996) Mol Cell Biol , vol.16 , pp. 1770-1776
    • Hasegawa, H.1    Kiyokawa, E.2    Tanaka, S.3    Nagashima, K.4    Gotoh, N.5    Shibuya, M.6
  • 33
    • 0030586326 scopus 로고    scopus 로고
    • Chromosomal mapping of the gene encoding DOCK180, a major Crk-binding protein, to 10q26.13-q26.3 by fluorescence in situ hybridization
    • Takai S., Hasegawa H., Kiyokawa E., Yamada K., Kurata T., Matsuda M. Chromosomal mapping of the gene encoding DOCK180, a major Crk-binding protein, to 10q26.13-q26.3 by fluorescence in situ hybridization. Genomics 1996, 35:403-404.
    • (1996) Genomics , vol.35 , pp. 403-404
    • Takai, S.1    Hasegawa, H.2    Kiyokawa, E.3    Yamada, K.4    Kurata, T.5    Matsuda, M.6
  • 34
    • 0032473635 scopus 로고    scopus 로고
    • Phagocytic docking without shocking
    • Savill J. Phagocytic docking without shocking. Nature 1998, 392:442-443.
    • (1998) Nature , vol.392 , pp. 442-443
    • Savill, J.1
  • 35
    • 0032473981 scopus 로고    scopus 로고
    • C. elegans phagocytosis and cell-migration protein CED-5 is similar to human DOCK180
    • Wu Y.-C., Horvitz H.R. C. elegans phagocytosis and cell-migration protein CED-5 is similar to human DOCK180. Nature 1998, 392:501-504.
    • (1998) Nature , vol.392 , pp. 501-504
    • Wu, Y.-C.1    Horvitz, H.R.2
  • 36
    • 0042674398 scopus 로고    scopus 로고
    • RhoG activates Rac1 by direct interaction with the Dock180-binding protein Elmo
    • Katoh H., Negishi M. RhoG activates Rac1 by direct interaction with the Dock180-binding protein Elmo. Nature 2003, 424:461-464.
    • (2003) Nature , vol.424 , pp. 461-464
    • Katoh, H.1    Negishi, M.2
  • 37
    • 36248987290 scopus 로고    scopus 로고
    • BAI1 is an engulfment receptor for apoptotic cells upstream of the ELMO/Dock180/Rac module
    • Park D., Tosello-Trampont A.-C., Elliott M.R., Lu M., Haney L.B., Ma Z., et al. BAI1 is an engulfment receptor for apoptotic cells upstream of the ELMO/Dock180/Rac module. Nature 2007, 450:430-434.
    • (2007) Nature , vol.450 , pp. 430-434
    • Park, D.1    Tosello-Trampont, A.-C.2    Elliott, M.R.3    Lu, M.4    Haney, L.B.5    Ma, Z.6
  • 41
    • 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 S.W., Jauch A., et al. 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, 93:349-354.
    • (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
  • 43
    • 0038218188 scopus 로고    scopus 로고
    • Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia
    • Morava é, Bartsch O., Czakó M., Frensel A., Kalscheuer V., Kárteszi J., et al. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin Dysmorphol 2003, 12:123-127.
    • (2003) Clin Dysmorphol , vol.12 , pp. 123-127
    • Morava é1    Bartsch, O.2    Czakó, M.3    Frensel, A.4    Kalscheuer, V.5    Kárteszi, J.6


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