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Volumn 19, Issue 8, 1999, Pages 721-726

Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15

Author keywords

Amniocentesis; Chromosome 15; Marker; Mosaicism; Uniparental disomy

Indexed keywords

ADULT; AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME 15; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HAPPY PUPPET SYNDROME; HUMAN; INHERITANCE; KARYOTYPING; MARKER CHROMOSOME; METHYLATION; PHENOTYPE; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; UNIPARENTAL DISOMY;

EID: 0032820496     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0223(199908)19:8<721::aid-pd616>3.0.co;2-m     Document Type: Article
Times cited : (19)

References (59)
  • 2
    • 0028027588 scopus 로고
    • Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization
    • Blennow E, Bui TH, Kristoffersson U, Vujic M, Annerén G, Holmberg E, Nordenskjöld M. 1994. Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14: 1019-1028.
    • (1994) Prenat Diagn , vol.14 , pp. 1019-1028
    • Blennow, E.1    Bui, T.H.2    Kristoffersson, U.3    Vujic, M.4    Annerén, G.5    Holmberg, E.6    Nordenskjöld, M.7
  • 5
    • 0021917574 scopus 로고
    • Forty four probands with an additional 'marker' chromosome
    • Buckton KE, Spowart G, Newton MS, Evans HJ. 1985. Forty four probands with an additional 'marker' chromosome. Hum Genet 69: 353-370.
    • (1985) Hum Genet , vol.69 , pp. 353-370
    • Buckton, K.E.1    Spowart, G.2    Newton, M.S.3    Evans, H.J.4
  • 7
    • 0031970998 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes. Disorders of genomic imprinting
    • Cassidy SB, Schwartz S. 1998. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine 77: 140-151.
    • (1998) Medicine , vol.77 , pp. 140-151
    • Cassidy, S.B.1    Schwartz, S.2
  • 8
    • 0027994534 scopus 로고
    • Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
    • Cheng SD, Spinner NB, Zackai EH, Knoll JHM. 1994. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55: 753-759.
    • (1994) Am J Hum Genet , vol.55 , pp. 753-759
    • Cheng, S.D.1    Spinner, N.B.2    Zackai, E.H.3    Knoll, J.H.M.4
  • 9
    • 0030883293 scopus 로고    scopus 로고
    • Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15
    • Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. 1997. Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15. Am J Med Genet 72: 47-50.
    • (1997) Am J Med Genet , vol.72 , pp. 47-50
    • Cheung, S.W.1    Shaffer, L.G.2    Richards, C.S.3    Page, S.L.4    Riconda, D.L.5
  • 10
    • 0002734195 scopus 로고    scopus 로고
    • High risk of uniparental disomy 15 associated with amniotic fluid containing de novo small supernumerary marker 15 chromosomes
    • Christian SL, Mills P, Das S, Ledbetter DH. 1998. High risk of uniparental disomy 15 associated with amniotic fluid containing de novo small supernumerary marker 15 chromosomes. Am J Hum Genet 63: A11.
    • (1998) Am J Hum Genet , vol.63
    • Christian, S.L.1    Mills, P.2    Das, S.3    Ledbetter, D.H.4
  • 12
    • 0021215701 scopus 로고
    • An analysis of the parental age effect for inv dup (15)
    • Connor JM, Gilmore DH. 1984. An analysis of the parental age effect for inv dup (15). J Med Genet 21: 213-214.
    • (1984) J Med Genet , vol.21 , pp. 213-214
    • Connor, J.M.1    Gilmore, D.H.2
  • 13
    • 0032477707 scopus 로고    scopus 로고
    • FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
    • Crolla JA. 1998. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 75: 367-381.
    • (1998) Am J Med Genet , vol.75 , pp. 367-381
    • Crolla, J.A.1
  • 14
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla JA, Harvey JK, Sitch FL, Dennis NR. 1995. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95: 161-170.
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.A.1    Harvey, J.K.2    Sitch, F.L.3    Dennis, N.R.4
  • 15
    • 0002141866 scopus 로고    scopus 로고
    • Prenatal diagnosis of maternal uniparental disomy of chromosome 15 in association with de novo supernumerary marker chromosome 15
    • Ebrahim SAD, Feldman B, Knaus A, Gyi K, Mills PL, Johnson MP, Evans MI. 1998. Prenatal diagnosis of maternal uniparental disomy of chromosome 15 in association with de novo supernumerary marker chromosome 15. Am J Hum Genet 63: A162.
    • (1998) Am J Hum Genet , vol.63
    • Ebrahim, S.A.D.1    Feldman, B.2    Knaus, A.3    Gyi, K.4    Mills, P.L.5    Johnson, M.P.6    Evans, M.I.7
  • 17
    • 0018967253 scopus 로고
    • An extra idic(15p)(q11) chromosome in Prader-Willi syndrome
    • Fujita H, Sakamoto Y, Hamamoto Y. 1980. An extra idic(15p)(q11) chromosome in Prader-Willi syndrome. Hum Genet 55: 409-411.
    • (1980) Hum Genet , vol.55 , pp. 409-411
    • Fujita, H.1    Sakamoto, Y.2    Hamamoto, Y.3
  • 19
    • 0031886935 scopus 로고    scopus 로고
    • Unusual features in children with inv dup(15) supernumerary marker: A study of genotype-phenotype correlation in Taiwan
    • Hou JW, Wang TR. 1998. Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan. Eur J Paediatr 157: 122-127.
    • (1998) Eur J Paediatr , vol.157 , pp. 122-127
    • Hou, J.W.1    Wang, T.R.2
  • 21
    • 0019018069 scopus 로고
    • Chromosomal abnormality in Prader-Willi syndrome
    • Kousseff BG. 1980. Chromosomal abnormality in Prader-Willi syndrome. Clin Genet 17: 364-366.
    • (1980) Clin Genet , vol.17 , pp. 364-366
    • Kousseff, B.G.1
  • 22
    • 0023634789 scopus 로고
    • Unique mosaicism in Prader-Labhart-Willi syndrome - A contiguous gene or aneuploidy syndrome
    • Kousseff BG, Diamond T, Essig Y, Miller K, Tedesco T. 1987. Unique mosaicism in Prader-Labhart-Willi syndrome - a contiguous gene or aneuploidy syndrome. Am J Med Genet 28: 803-811.
    • (1987) Am J Med Genet , vol.28 , pp. 803-811
    • Kousseff, B.G.1    Diamond, T.2    Essig, Y.3    Miller, K.4    Tedesco, T.5
  • 26
    • 0020456260 scopus 로고
    • The cytogenetic controversy in the prader-Labhart-Willi syndrome
    • Personal communication quoted in:Kousseff BG. 1982
    • Lubinsky M. 1980. Personal communication quoted in:Kousseff BG. 1982. The cytogenetic controversy in the Prader-Labhart-Willi syndrome. Am J Med Genet 13: 431-439.
    • (1980) Am J Med Genet , vol.13 , pp. 431-439
    • Lubinsky, M.1
  • 27
    • 0020512319 scopus 로고
    • Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases
    • Mattei JF, Mattei MG, Giraud F. 1983. Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases. Hum Genet 64: 356-362.
    • (1983) Hum Genet , vol.64 , pp. 356-362
    • Mattei, J.F.1    Mattei, M.G.2    Giraud, F.3
  • 28
    • 0021324098 scopus 로고
    • Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis
    • Mattei MG, Souiah N, Mattei JF. 1984. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis. Hum Genet 66: 313-334.
    • (1984) Hum Genet , vol.66 , pp. 313-334
    • Mattei, M.G.1    Souiah, N.2    Mattei, J.F.3
  • 29
    • 1842411314 scopus 로고    scopus 로고
    • Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection
    • Mau UA, Bäckert IT, Kaiser P, Kiesel L. 1997. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod 12: 930-937.
    • (1997) Hum Reprod , vol.12 , pp. 930-937
    • Mau, U.A.1    Bäckert, I.T.2    Kaiser, P.3    Kiesel, L.4
  • 31
    • 0018291022 scopus 로고
    • Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases
    • Michaelsen KF, Lundsteen C, Hansen FJ. 1979. Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases. Clin Genet 16: 147-150.
    • (1979) Clin Genet , vol.16 , pp. 147-150
    • Michaelsen, K.F.1    Lundsteen, C.2    Hansen, F.J.3
  • 32
    • 0022512437 scopus 로고
    • Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome
    • Murdock RL, Wurster-Hill DH. 1986. Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome. Am J Med Genet 25: 61-69.
    • (1986) Am J Med Genet , vol.25 , pp. 61-69
    • Murdock, R.L.1    Wurster-Hill, D.H.2
  • 34
    • 0032581119 scopus 로고    scopus 로고
    • Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15)(p25;q11.2)
    • Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK. 1998. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15)(p25;q11.2). Am J Med Genet 78: 134-139.
    • (1998) Am J Med Genet , vol.78 , pp. 134-139
    • Park, J.P.1    Moeschler, J.B.2    Hani, V.H.3    Hawk, A.B.4    Belloni, D.R.5    Noll, W.W.6    Mohandas, T.K.7
  • 36
    • 0031935586 scopus 로고    scopus 로고
    • Clinical management of a rare de novo translocation 46,X,t(Y;15)(p11.2-11.3;q11.2).ish t(Y;15)(DYZ3+, AMELY+,SNRPN+;D15Z+) found prenatally
    • Reddy KS. 1998. Clinical management of a rare de novo translocation 46,X,t(Y;15)(p11.2-11.3;q11.2).ish t(Y;15)(DYZ3+, AMELY+,SNRPN+;D15Z+) found prenatally. Prenat Diagn 18: 294-297.
    • (1998) Prenat Diagn , vol.18 , pp. 294-297
    • Reddy, K.S.1
  • 38
    • 0015029414 scopus 로고
    • A case of Prader-Willi syndrome in a girl with a small extra chromosome
    • Ridler MAC, Garrod O, Berg JM. 1971. A case of Prader-Willi syndrome in a girl with a small extra chromosome. Acta Paediatr Scand 60: 222-226.
    • (1971) Acta Paediatr Scand , vol.60 , pp. 222-226
    • Ridler, M.A.C.1    Garrod, O.2    Berg, J.M.3
  • 39
    • 0030815999 scopus 로고    scopus 로고
    • Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomie zygote rescue
    • Roberts E, Stevenson K, Cole T, Redford DHA, Davison EV. 1997. Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomie zygote rescue. Prenat Diagn 17: 780-783.
    • (1997) Prenat Diagn , vol.17 , pp. 780-783
    • Roberts, E.1    Stevenson, K.2    Cole, T.3    Redford, D.H.A.4    Davison, E.V.5
  • 43
    • 0344098475 scopus 로고
    • Syndrome associant adiposité chryptorchidie et retard mental accompagné d'une aberration chromosomique
    • Roget J, Mouriquand C, Bernard Y, Patet J, Jobert J, Gilly C. 1965. Syndrome associant adiposité chryptorchidie et retard mental accompagné d'une aberration chromosomique. Pédiatrie 20: 295-300.
    • (1965) Pédiatrie , vol.20 , pp. 295-300
    • Roget, J.1    Mouriquand, C.2    Bernard, Y.3    Patet, J.4    Jobert, J.5    Gilly, C.6
  • 44
    • 0031043334 scopus 로고    scopus 로고
    • Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis - Uniparental disomy and the significance of residual trisomy 15
    • Slater HR, Vaux C, Pertile M, Burgess T, Petrovic V. 1997. Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis - uniparental disomy and the significance of residual trisomy 15. Prenat Diagn 17: 109-113.
    • (1997) Prenat Diagn , vol.17 , pp. 109-113
    • Slater, H.R.1    Vaux, C.2    Pertile, M.3    Burgess, T.4    Petrovic, V.5
  • 45
    • 0024557264 scopus 로고
    • Classical Prader-Willi syndrome with trisomy 15(pter-q12) plus de novo variant 15p11
    • Smith A, Den Dulk G, Lipson A, Suter M. 1989. Classical Prader-Willi syndrome with trisomy 15(pter-q12) plus de novo variant 15p11. Ann Génét 32: 39-42.
    • (1989) Ann Génét , vol.32 , pp. 39-42
    • Smith, A.1    Den Dulk, G.2    Lipson, A.3    Suter, M.4
  • 46
    • 0029065181 scopus 로고
    • Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13
    • Spinner NB, Zackai E, Cheng SD, Knoll JHM. 1995. Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. Am J Med Genet 57: 61-65.
    • (1995) Am J Med Genet , vol.57 , pp. 61-65
    • Spinner, N.B.1    Zackai, E.2    Cheng, S.D.3    Knoll, J.H.M.4
  • 48
    • 0030469647 scopus 로고    scopus 로고
    • Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities
    • Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A. 1996. Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum Reprod 11: 2609-2612.
    • (1996) Hum Reprod , vol.11 , pp. 2609-2612
    • Testart, J.1    Gautier, E.2    Brami, C.3    Rolet, F.4    Sedbon, E.5    Thebault, A.6
  • 49
    • 0022587338 scopus 로고
    • Dicentric chromosomes and the inactivation of the centromere
    • Therman E, Trunca C, Kuhn EM, Sarto GE. 1986. Dicentric chromosomes and the inactivation of the centromere. Hum Genet 72: 191-195.
    • (1986) Hum Genet , vol.72 , pp. 191-195
    • Therman, E.1    Trunca, C.2    Kuhn, E.M.3    Sarto, G.E.4
  • 52
    • 0028128302 scopus 로고
    • Inv dup(15) supernumerary marker chromosomes
    • Webb T. 1994. Inv dup(15) supernumerary marker chromosomes. J Med Genet 31: 585-595.
    • (1994) J Med Genet , vol.31 , pp. 585-595
    • Webb, T.1
  • 53
    • 0031881661 scopus 로고    scopus 로고
    • A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes
    • Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. 1998. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes. Clin Genet 53: 34-43.
    • (1998) Clin Genet , vol.53 , pp. 34-43
    • Webb, T.1    Hardy, C.A.2    King, M.3    Watkiss, E.4    Mitchell, C.5    Cole, T.6
  • 54
    • 0023629642 scopus 로고
    • Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion
    • Wenger SL, Hanchett JM, Steele MW, Maier BV, Golden WL. 1987. Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion. Am J Med Genet 28: 881-887.
    • (1987) Am J Med Genet , vol.28 , pp. 881-887
    • Wenger, S.L.1    Hanchett, J.M.2    Steele, M.W.3    Maier, B.V.4    Golden, W.L.5
  • 55
    • 0031934318 scopus 로고    scopus 로고
    • Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation
    • White LM, Treat K, Leff A, Styers D, Mitchell M, Knoll JHM. 1998. Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation. Prenat Diagn 18: 111-116.
    • (1998) Prenat Diagn , vol.18 , pp. 111-116
    • White, L.M.1    Treat, K.2    Leff, A.3    Styers, D.4    Mitchell, M.5    Knoll, J.H.M.6
  • 58
    • 0020412710 scopus 로고
    • A 15-1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)
    • Wulfsberg EA, Sparkes RS, Klisak IJ, Gurfield WB. 1982. A 15-1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11). Am J Med Genet 13: 417-421.
    • (1982) Am J Med Genet , vol.13 , pp. 417-421
    • Wulfsberg, E.A.1    Sparkes, R.S.2    Klisak, I.J.3    Gurfield, W.B.4
  • 59
    • 0031791685 scopus 로고    scopus 로고
    • Studies of non-disjunction in trisomies 2, 7, 15, and 22: Does the parental origin of trisomy influence placental morphology?
    • Zaragoza MV, Millie E, Redline RW, Hassold TJ. 1998. Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? J Med Genet 35: 924-931.
    • (1998) J Med Genet , vol.35 , pp. 924-931
    • Zaragoza, M.V.1    Millie, E.2    Redline, R.W.3    Hassold, T.J.4


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