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Volumn 49, Issue 1, 2010, Pages 13-22

Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

Author keywords

confined placental mosaicism; mosaicism; phylloid hypomelanosis; prenatal diagnosis; trisomy 13

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; CHROMOSOME ANALYSIS; CORDOCENTESIS; CYTOGENETICS; DIPLOIDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FETUS ECHOGRAPHY; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; HYPOMELANOSIS; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MOSAICISM; OUTCOME ASSESSMENT; PHENOTYPE; PLACENTA FUNCTION; POLYDACTYLY; PRENATAL DIAGNOSIS; REVIEW; TRISOMY 13;

EID: 77953271696     PISSN: 10284559     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/S1028-4559(10)60003-4     Document Type: Review
Times cited : (19)

References (59)
  • 1
    • 0020606517 scopus 로고
    • Chromosomal mosaicism confined to the placenta in human conceptions
    • Kalousek D.K., and Dill F.J. Chromosomal mosaicism confined to the placenta in human conceptions. Science 221 (1983) 665-667
    • (1983) Science , vol.221 , pp. 665-667
    • Kalousek, D.K.1    Dill, F.J.2
  • 2
    • 0026682553 scopus 로고
    • Cytogenetic results from the U.S. Collaborative Study on CVS
    • Ledbetter D.H., Zachary J.M., Simpson J.L., et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 12 (1992) 317-345
    • (1992) Prenat Diagn , vol.12 , pp. 317-345
    • Ledbetter, D.H.1    Zachary, J.M.2    Simpson, J.L.3
  • 3
    • 0034049607 scopus 로고    scopus 로고
    • Pathogenesis of chromosomal mosaicism and its effect on early human development
    • Kalousek D.K. Pathogenesis of chromosomal mosaicism and its effect on early human development. Am J Med Genet 91 (2000) 39-45
    • (2000) Am J Med Genet , vol.91 , pp. 39-45
    • Kalousek, D.K.1
  • 4
    • 0024596935 scopus 로고
    • Placental mosaicism and intrauterine survival of trisomies 13 and 18
    • Kalousek D.K., Barrett I.J., and McGillivray B.C. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 44 (1989) 338-343
    • (1989) Am J Hum Genet , vol.44 , pp. 338-343
    • Kalousek, D.K.1    Barrett, I.J.2    McGillivray, B.C.3
  • 5
    • 0026560379 scopus 로고
    • Spontaneous abortion and confined chromosomal mosaicism
    • Kalousek D.K., Barrett I.J., and Gärtner A.B. Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 88 (1992) 642-646
    • (1992) Hum Genet , vol.88 , pp. 642-646
    • Kalousek, D.K.1    Barrett, I.J.2    Gärtner, A.B.3
  • 6
    • 0025272584 scopus 로고
    • Mosaicism in chorionic villus sampling: an association with poor perinatal outcome
    • Johnson A., Wapner R.J., Davis G.H., and Jackson L.G. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol 75 (1990) 573-577
    • (1990) Obstet Gynecol , vol.75 , pp. 573-577
    • Johnson, A.1    Wapner, R.J.2    Davis, G.H.3    Jackson, L.G.4
  • 7
    • 0025991931 scopus 로고
    • Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism
    • Kalousek D.K., Howard-Peebles P.N., Olson S.B., et al. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 11 (1991) 743-750
    • (1991) Prenat Diagn , vol.11 , pp. 743-750
    • Kalousek, D.K.1    Howard-Peebles, P.N.2    Olson, S.B.3
  • 8
    • 0027531981 scopus 로고
    • Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases
    • Wang B.B.T., Rubin C.H., and Williams III J. Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 13 (1993) 179-190
    • (1993) Prenat Diagn , vol.13 , pp. 179-190
    • Wang, B.B.T.1    Rubin, C.H.2    Williams III, J.3
  • 9
    • 0028290914 scopus 로고
    • Confined placen-tal mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey
    • Wolstenholme J., Rooney D.E., and Davison E.V. Confined placen-tal mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenat Diagn 14 (1994) 345-361
    • (1994) Prenat Diagn , vol.14 , pp. 345-361
    • Wolstenholme, J.1    Rooney, D.E.2    Davison, E.V.3
  • 10
    • 16944367292 scopus 로고    scopus 로고
    • Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
    • Robinson W.P., Barrett I.J., Bernard L., et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60 (1997) 917-927
    • (1997) Am J Hum Genet , vol.60 , pp. 917-927
    • Robinson, W.P.1    Barrett, I.J.2    Bernard, L.3
  • 11
  • 12
    • 0027159867 scopus 로고
    • Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling
    • Fryburg J.S., Dimaio M.S., Yang-Feng T.L., and Mahoney M.J. Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling. Prenat Diagn 13 (1993) 481-494
    • (1993) Prenat Diagn , vol.13 , pp. 481-494
    • Fryburg, J.S.1    Dimaio, M.S.2    Yang-Feng, T.L.3    Mahoney, M.J.4
  • 13
    • 0028207074 scopus 로고
    • The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods
    • Pittalis M.C., Dalpra L., Torricelli F., et al. The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 14 (1994) 267-278
    • (1994) Prenat Diagn , vol.14 , pp. 267-278
    • Pittalis, M.C.1    Dalpra, L.2    Torricelli, F.3
  • 14
    • 0027935121 scopus 로고
    • Confined pla-cental mosaicism in CVS and pregnancy outcome
    • Roland B., Lynch L., Berkowitz G., and Zinberg R. Confined pla-cental mosaicism in CVS and pregnancy outcome. Prenat Diagn 14 (1994) 589-593
    • (1994) Prenat Diagn , vol.14 , pp. 589-593
    • Roland, B.1    Lynch, L.2    Berkowitz, G.3    Zinberg, R.4
  • 15
    • 0028126746 scopus 로고
    • Chorionic villi sampling: laboratory experience with 4000 consecutive cases
    • Wang B.T., Peng W., Cheng K.T., et al. Chorionic villi sampling: laboratory experience with 4000 consecutive cases. Am J Med Genet 53 (1994) 307-316
    • (1994) Am J Med Genet , vol.53 , pp. 307-316
    • Wang, B.T.1    Peng, W.2    Cheng, K.T.3
  • 16
    • 0030941126 scopus 로고    scopus 로고
    • European Collaborative Research on Mosaicism in CVS (EUCROMIC)-fetal and extra fetal lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy
    • Hahnemann J.M., and Vejerslev L.O. European Collaborative Research on Mosaicism in CVS (EUCROMIC)-fetal and extra fetal lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet 70 (1997) 179-187
    • (1997) Am J Med Genet , vol.70 , pp. 179-187
    • Hahnemann, J.M.1    Vejerslev, L.O.2
  • 17
    • 0031974239 scopus 로고    scopus 로고
    • Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation
    • Delatycki M.B., Pertile M.D., and Gardner R.J. Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation. Prenat Diagn 18 (1998) 45-50
    • (1998) Prenat Diagn , vol.18 , pp. 45-50
    • Delatycki, M.B.1    Pertile, M.D.2    Gardner, R.J.3
  • 18
    • 0031789931 scopus 로고    scopus 로고
    • Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks
    • Los F.J., van den Berg C., Van Opstal D., et al. Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks. Prenat Diagn 18 (1998) 1023-1040
    • (1998) Prenat Diagn , vol.18 , pp. 1023-1040
    • Los, F.J.1    van den Berg, C.2    Van Opstal, D.3
  • 19
    • 0037051120 scopus 로고    scopus 로고
    • Trisomy 13 or 18 (mosaicism) in first trimester cytotro-phoblast cells: false-positive results in 11 out of 51 cases
    • Schuring-Blom G.H., Boer K., Knegt A.C., Verjaal M., and Leschot N.J. Trisomy 13 or 18 (mosaicism) in first trimester cytotro-phoblast cells: false-positive results in 11 out of 51 cases. Eur J Obstet Gynecol Reprod Biol 101 (2002) 161-168
    • (2002) Eur J Obstet Gynecol Reprod Biol , vol.101 , pp. 161-168
    • Schuring-Blom, G.H.1    Boer, K.2    Knegt, A.C.3    Verjaal, M.4    Leschot, N.J.5
  • 20
    • 0348108087 scopus 로고    scopus 로고
    • Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or pathogenic hypothesis?
    • Doray B., Viville B., Touret Y., et al. Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or pathogenic hypothesis?. Prenat Diagn 23 (2003) 1021-1023
    • (2003) Prenat Diagn , vol.23 , pp. 1021-1023
    • Doray, B.1    Viville, B.2    Touret, Y.3
  • 21
    • 13244249913 scopus 로고    scopus 로고
    • Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
    • Donaghue C., Mann K., Docherty Z., and Ogilvie C.M. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 25 (2005) 65-72
    • (2005) Prenat Diagn , vol.25 , pp. 65-72
    • Donaghue, C.1    Mann, K.2    Docherty, Z.3    Ogilvie, C.M.4
  • 22
    • 33845571784 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of tri-somy 18 detected in CVS
    • Allen S.K., Luharia A., Gould C.P., MacDonald F., Larkins S., and Davison E.V. Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of tri-somy 18 detected in CVS. Prenat Diagn 26 (2006) 1160-1167
    • (2006) Prenat Diagn , vol.26 , pp. 1160-1167
    • Allen, S.K.1    Luharia, A.2    Gould, C.P.3    MacDonald, F.4    Larkins, S.5    Davison, E.V.6
  • 23
    • 33750571690 scopus 로고    scopus 로고
    • Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS
    • Waters J.J., Walsh S., Levett L.J., Liddle S., and Akinfenwa Y. Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS. Prenat Diagn 26 (2006) 892-897
    • (2006) Prenat Diagn , vol.26 , pp. 892-897
    • Waters, J.J.1    Walsh, S.2    Levett, L.J.3    Liddle, S.4    Akinfenwa, Y.5
  • 24
    • 34247230944 scopus 로고    scopus 로고
    • Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS
    • Waters J.J., Mann K., Grimsley L., et al. Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS. Prenat Diagn 27 (2007) 332-339
    • (2007) Prenat Diagn , vol.27 , pp. 332-339
    • Waters, J.J.1    Mann, K.2    Grimsley, L.3
  • 25
    • 33947431692 scopus 로고    scopus 로고
    • Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing
    • Mann K., Kabba M., Donaghue C., Hills A., and Ogilvie C.M. Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing. Prenat Diagn 27 (2007) 287-289
    • (2007) Prenat Diagn , vol.27 , pp. 287-289
    • Mann, K.1    Kabba, M.2    Donaghue, C.3    Hills, A.4    Ogilvie, C.M.5
  • 26
    • 59649122688 scopus 로고    scopus 로고
    • Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture
    • Lau E.T., Tang L., Wong C., et al. Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture. Prenat Diagn 29 (2009) 151-155
    • (2009) Prenat Diagn , vol.29 , pp. 151-155
    • Lau, E.T.1    Tang, L.2    Wong, C.3
  • 27
    • 0021135603 scopus 로고
    • A Canadian collaborative study of mosaicism in amniotic fluid cell cultures
    • Worton R.G., and Stern R. A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn 4 (1984) 131-144
    • (1984) Prenat Diagn , vol.4 , pp. 131-144
    • Worton, R.G.1    Stern, R.2
  • 29
    • 40149090358 scopus 로고    scopus 로고
    • Parental age counseling and screening for fetal trisomy
    • Gardner R.J.M., and Sutherland G.R. (Eds), Oxford University Press, New York
    • rd edition (2004), Oxford University Press, New York 363-372
    • (2004) rd edition , pp. 363-372
    • Gardner, R.J.M.1    Sutherland, G.R.2
  • 30
    • 0021131817 scopus 로고
    • European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures
    • Bui T.H., Iselius L., and Lindsten J. European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn 4 (1984) 145-162
    • (1984) Prenat Diagn , vol.4 , pp. 145-162
    • Bui, T.H.1    Iselius, L.2    Lindsten, J.3
  • 31
    • 0021634135 scopus 로고
    • United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis
    • Hsu L., and Perlis T.E. United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 4 (1984) 97-130
    • (1984) Prenat Diagn , vol.4 , pp. 97-130
    • Hsu, L.1    Perlis, T.E.2
  • 33
    • 0026741249 scopus 로고
    • Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudo-mosaicism studies
    • Hsu L., Kaffe S., Jenkins E.C., et al. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudo-mosaicism studies. Prenat Diagn 12 (1992) 555-573
    • (1992) Prenat Diagn , vol.12 , pp. 555-573
    • Hsu, L.1    Kaffe, S.2    Jenkins, E.C.3
  • 34
    • 13344294391 scopus 로고    scopus 로고
    • Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study
    • Hsu L., Yu M.T., Richkind K.E., et al. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat Diagn 16 (1996) 1-28
    • (1996) Prenat Diagn , vol.16 , pp. 1-28
    • Hsu, L.1    Yu, M.T.2    Richkind, K.E.3
  • 35
    • 0028854976 scopus 로고
    • Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection
    • Robinson W.P., Binkert F., Bernasconi F., Lorda-Sanchez I., Werder E.A., and Schinzel A.A. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56 (1995) 444-451
    • (1995) Am J Hum Genet , vol.56 , pp. 444-451
    • Robinson, W.P.1    Binkert, F.2    Bernasconi, F.3    Lorda-Sanchez, I.4    Werder, E.A.5    Schinzel, A.A.6
  • 36
    • 0032738324 scopus 로고    scopus 로고
    • Revised guidelines for the diagnosis of mosaicism in amniocytes
    • Hsu L., and Benn P.A. Revised guidelines for the diagnosis of mosaicism in amniocytes. Prenat Diagn 19 (1999) 1081-1082
    • (1999) Prenat Diagn , vol.19 , pp. 1081-1082
    • Hsu, L.1    Benn, P.A.2
  • 38
    • 0026556095 scopus 로고
    • The dilemma of a low rate of chromosomal mosaicism found in fetal blood sampling
    • Fejgin M., Barnes I., Lipnick N., Magid Z., Kohn G., and Amiel A. The dilemma of a low rate of chromosomal mosaicism found in fetal blood sampling. Prenat Diagn 12 (1992) 129-131
    • (1992) Prenat Diagn , vol.12 , pp. 129-131
    • Fejgin, M.1    Barnes, I.2    Lipnick, N.3    Magid, Z.4    Kohn, G.5    Amiel, A.6
  • 39
    • 0031785982 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic trisomy 13: a case report
    • Eubanks S.R., Kuller J.A., Amjadi D., and Powell C.M. Prenatal diagnosis of mosaic trisomy 13: a case report. Prenat Diagn 18 (1998) 971-974
    • (1998) Prenat Diagn , vol.18 , pp. 971-974
    • Eubanks, S.R.1    Kuller, J.A.2    Amjadi, D.3    Powell, C.M.4
  • 40
    • 17144449168 scopus 로고    scopus 로고
    • Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations
    • Wallerstein R., Yu M.T., Neu R.L., et al. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenat Diagn 20 (2000) 103-122
    • (2000) Prenat Diagn , vol.20 , pp. 103-122
    • Wallerstein, R.1    Yu, M.T.2    Neu, R.L.3
  • 44
    • 1542321066 scopus 로고    scopus 로고
    • Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy
    • Chen M., Yeh G.P., Shih J.C., and Wang B.T. Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy. Prenat Diagn 24 (2004) 137-143
    • (2004) Prenat Diagn , vol.24 , pp. 137-143
    • Chen, M.1    Yeh, G.P.2    Shih, J.C.3    Wang, B.T.4
  • 45
    • 33847371570 scopus 로고    scopus 로고
    • Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age
    • Di Giacomo M.C., Susca F.C., Resta N., Bukvic N., Vimercati A., and Guanti G. Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age. Am J Med Genet A 143 (2007) 518-520
    • (2007) Am J Med Genet A , vol.143 , pp. 518-520
    • Di Giacomo, M.C.1    Susca, F.C.2    Resta, N.3    Bukvic, N.4    Vimercati, A.5    Guanti, G.6
  • 46
    • 0014317115 scopus 로고
    • Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival
    • Magenis R.E., Hecht F., and Milham Jr. S. Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival. J Pediatr 73 (1968) 222-228
    • (1968) J Pediatr , vol.73 , pp. 222-228
    • Magenis, R.E.1    Hecht, F.2    Milham Jr., S.3
  • 47
    • 0030919227 scopus 로고    scopus 로고
    • Three cases of trisomy 13 mosaicism and a review of the literature
    • Delatycki M., and Gardner R.J.M. Three cases of trisomy 13 mosaicism and a review of the literature. Clin Genet 51 (1997) 403-407
    • (1997) Clin Genet , vol.51 , pp. 403-407
    • Delatycki, M.1    Gardner, R.J.M.2
  • 48
    • 0037383509 scopus 로고    scopus 로고
    • Population-based analyses of mortality in trisomy 13 and trisomy 18
    • Rasmussen S.A., Wong L., Yang Q., May K.M., and Friedman J.M. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111 (2003) 777-784
    • (2003) Pediatrics , vol.111 , pp. 777-784
    • Rasmussen, S.A.1    Wong, L.2    Yang, Q.3    May, K.M.4    Friedman, J.M.5
  • 49
    • 34547662350 scopus 로고    scopus 로고
    • Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism
    • Hsu H.F., and Hou J.W. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J Med Genet A 143 (2007) 1739-1748
    • (2007) Am J Med Genet A , vol.143 , pp. 1739-1748
    • Hsu, H.F.1    Hou, J.W.2
  • 50
    • 66349096902 scopus 로고    scopus 로고
    • Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review
    • Griffith C.B., Vance G.H., and Weaver D.D. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Am J Med Genet A 149 (2009) 1346-1358
    • (2009) Am J Med Genet A , vol.149 , pp. 1346-1358
    • Griffith, C.B.1    Vance, G.H.2    Weaver, D.D.3
  • 51
    • 0027200119 scopus 로고
    • Pigmentary patterns associated with human mosaicism: a proposed classification
    • Happle R. Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 3 (1993) 170-174
    • (1993) Eur J Dermatol , vol.3 , pp. 170-174
    • Happle, R.1
  • 52
    • 0030744860 scopus 로고    scopus 로고
    • Phylloid pigmentary pattern with mosaic trisomy 13
    • Horn D., Rommeck M., Sommer D., and Körner H. Phylloid pigmentary pattern with mosaic trisomy 13. Pediatr Dermatol 14 (1997) 278-280
    • (1997) Pediatr Dermatol , vol.14 , pp. 278-280
    • Horn, D.1    Rommeck, M.2    Sommer, D.3    Körner, H.4
  • 53
    • 0031870734 scopus 로고    scopus 로고
    • Pigmentary abnormalities in trisomy of chromosome 13
    • Pillay T., Winship W.S., and Ramdial P.K. Pigmentary abnormalities in trisomy of chromosome 13. Clin Dysmorphol 7 (1998) 191-194
    • (1998) Clin Dysmorphol , vol.7 , pp. 191-194
    • Pillay, T.1    Winship, W.S.2    Ramdial, P.K.3
  • 54
    • 0033767860 scopus 로고    scopus 로고
    • Phylloid hypomelanosis is closely related to mosaic trisomy 13
    • Happle R. Phylloid hypomelanosis is closely related to mosaic trisomy 13. Eur J Dermatol 10 (2000) 511-512
    • (2000) Eur J Dermatol , vol.10 , pp. 511-512
    • Happle, R.1
  • 55
    • 0035863597 scopus 로고    scopus 로고
    • Phylloid pattern of pigmentary disturbance in a case of complex mosaicism
    • Ribeiro Noce T., de Pina-Neto J.M., and Happle R. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism. Am J Med Genet 98 (2001) 145-147
    • (2001) Am J Med Genet , vol.98 , pp. 145-147
    • Ribeiro Noce, T.1    de Pina-Neto, J.M.2    Happle, R.3
  • 56
  • 57
    • 47549095043 scopus 로고    scopus 로고
    • Patau syndrome with long survival in a case of unusual mosaic trisomy 13
    • Fogu G., Maserati E., Cambosu F., et al. Patau syndrome with long survival in a case of unusual mosaic trisomy 13. Eur J Med Genet 51 (2008) 303-314
    • (2008) Eur J Med Genet , vol.51 , pp. 303-314
    • Fogu, G.1    Maserati, E.2    Cambosu, F.3
  • 58
    • 66149086851 scopus 로고    scopus 로고
    • Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity
    • González-Enseñat M.A., Vicente A., Poo P., et al. Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity. Arch Dermatol 145 (2009) 576-578
    • (2009) Arch Dermatol , vol.145 , pp. 576-578
    • González-Enseñat, M.A.1    Vicente, A.2    Poo, P.3
  • 59
    • 66849104470 scopus 로고    scopus 로고
    • Tetrasomy 13q mosaicism associated with phylloid hypo-melanosis and precocious puberty
    • Dhar S.U., Robbins-Furman P., Levy M.L., Patel A., and Scaglia F. Tetrasomy 13q mosaicism associated with phylloid hypo-melanosis and precocious puberty. Am J Med Genet A 149 (2009) 993-996
    • (2009) Am J Med Genet A , vol.149 , pp. 993-996
    • Dhar, S.U.1    Robbins-Furman, P.2    Levy, M.L.3    Patel, A.4    Scaglia, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.