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Volumn 21, Issue 2, 2015, Pages 77-87

Mosaicism and uniparental disomy in prenatal diagnosis

Author keywords

Aneuploidy; Genetic counseling; Genetic testing; Mosaicism; Prenatal diagnosis; Uniparental disomy

Indexed keywords

AMNION FLUID; ANEUPLOIDY; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CHROMOSOME SEGREGATION; DISEASE PREDISPOSITION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; OUTCOME ASSESSMENT; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW; ROBERTSONIAN CHROMOSOME TRANSLOCATION; TRISOMY 16; UMBILICAL CORD BLOOD; UNIPARENTAL DISOMY; FEMALE; GENETICS; MOSAICISM; PREGNANCY COMPLICATIONS;

EID: 84922855669     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2014.11.010     Document Type: Review
Times cited : (98)

References (71)
  • 1
    • 0025932233 scopus 로고
    • Pathology of abortion: chromosomal and genetic correlations
    • Kalousek D.K. Pathology of abortion: chromosomal and genetic correlations. Monogr. Pathol. 1991, 33:228-256.
    • (1991) Monogr. Pathol. , vol.33 , pp. 228-256
    • Kalousek, D.K.1
  • 3
    • 0020606517 scopus 로고
    • Chromosomal mosaicism confined to the placenta in human conceptions
    • Kalousek D.K., Dill F.J. Chromosomal mosaicism confined to the placenta in human conceptions. Science 1983, 221:665-667.
    • (1983) Science , vol.221 , pp. 665-667
    • Kalousek, D.K.1    Dill, F.J.2
  • 5
    • 0023754181 scopus 로고
    • Review and hypotheses: somatic mosaicism: observations related to clinical genetics
    • Hall J.G. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am. J. Hum. Genet. 1988, 43:355-363.
    • (1988) Am. J. Hum. Genet. , vol.43 , pp. 355-363
    • Hall, J.G.1
  • 6
    • 0024419361 scopus 로고
    • Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism
    • Thomas I.T., et al. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am. J. Hum. Genet. 1989, 45:193-205.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 193-205
    • Thomas, I.T.1
  • 7
    • 0018939994 scopus 로고
    • A new genetic concept: uniparental disomy and its potential effect, isodisomy
    • Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am. J. Med. Genet. 1980, 6:137-143.
    • (1980) Am. J. Med. Genet. , vol.6 , pp. 137-143
    • Engel, E.1
  • 8
    • 0023897290 scopus 로고
    • Uniparental disomy as a mechanism for human genetic disease
    • Spence J.E., et al. Uniparental disomy as a mechanism for human genetic disease. Am. J. Hum. Genet. 1988, 42:217-226.
    • (1988) Am. J. Hum. Genet. , vol.42 , pp. 217-226
    • Spence, J.E.1
  • 9
    • 0023629482 scopus 로고
    • Variation in the frequency and type of sperm chromosomal abnormalities among normal men
    • Martin R.H., et al. Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum. Genet. 1987, 77:108-114.
    • (1987) Hum. Genet. , vol.77 , pp. 108-114
    • Martin, R.H.1
  • 10
    • 0025773075 scopus 로고
    • Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection
    • Engel E., DeLozier-Blanchet C.D. Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am. J. Med. Genet. 1991, 40:432-439.
    • (1991) Am. J. Med. Genet. , vol.40 , pp. 432-439
    • Engel, E.1    DeLozier-Blanchet, C.D.2
  • 11
    • 22144446038 scopus 로고    scopus 로고
    • Uniparental disomy (UPD) other than 15: phenotypes and bibliography UPDated
    • Kotzot D., Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography UPDated. Am. J. Med. Genet. 2005, 136:287-305.
    • (2005) Am. J. Med. Genet. , vol.136 , pp. 287-305
    • Kotzot, D.1    Utermann, G.2
  • 12
    • 38949084820 scopus 로고    scopus 로고
    • Prenatal testing for uniparental disomy: indications and clinical relevance
    • Kotzot D. Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet. Gynecol. 2008, 31:100-105.
    • (2008) Ultrasound Obstet. Gynecol. , vol.31 , pp. 100-105
    • Kotzot, D.1
  • 13
    • 84885385027 scopus 로고    scopus 로고
    • SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy
    • Keren B., et al. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. Eur. J. Med. Genet. 2013, 56:546-550.
    • (2013) Eur. J. Med. Genet. , vol.56 , pp. 546-550
    • Keren, B.1
  • 14
    • 0034119613 scopus 로고    scopus 로고
    • Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
    • Mergenthaler S., et al. Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Ann. Genet. 2000, 43:15-21.
    • (2000) Ann. Genet. , vol.43 , pp. 15-21
    • Mergenthaler, S.1
  • 15
    • 33644866393 scopus 로고    scopus 로고
    • Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
    • Cockwell A.E., et al. Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect. Am. J. Med. Genet. 2006, 140:624-627.
    • (2006) Am. J. Med. Genet. , vol.140 , pp. 624-627
    • Cockwell, A.E.1
  • 16
    • 15844378207 scopus 로고    scopus 로고
    • Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism
    • Christian S.L., et al. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat. Diagn. 1996, 16:323-332.
    • (1996) Prenat. Diagn. , vol.16 , pp. 323-332
    • Christian, S.L.1
  • 17
    • 33645132708 scopus 로고    scopus 로고
    • Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi
    • Grati F.R., et al. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Eur. J. Hum. Genet. 2006, 14:282-288.
    • (2006) Eur. J. Hum. Genet. , vol.14 , pp. 282-288
    • Grati, F.R.1
  • 18
    • 33845515071 scopus 로고    scopus 로고
    • Changing rates of genetic subtypes of Prader-Willi syndrome in the UK
    • Whittington J.E., et al. Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Eur. J. Hum. Genet. 2007, 15:127-130.
    • (2007) Eur. J. Hum. Genet. , vol.15 , pp. 127-130
    • Whittington, J.E.1
  • 19
    • 84875418526 scopus 로고    scopus 로고
    • The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea
    • Cho S.Y., et al. The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. J. Hum. Genet. 2013, 58:150-154.
    • (2013) J. Hum. Genet. , vol.58 , pp. 150-154
    • Cho, S.Y.1
  • 20
    • 80052126086 scopus 로고    scopus 로고
    • Maternal age effect on the development of Prader-Willi syndrome resulting from UPD(15)mat through meiosis 1 errors
    • Matsubara K., et al. Maternal age effect on the development of Prader-Willi syndrome resulting from UPD(15)mat through meiosis 1 errors. J. Hum. Genet. 2011, 56:566-571.
    • (2011) J. Hum. Genet. , vol.56 , pp. 566-571
    • Matsubara, K.1
  • 21
    • 0029658702 scopus 로고    scopus 로고
    • Cytogenetic and age-dependent risk factors associated with uniparental disomy 15
    • Robinson W.P., et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat. Diagn. 1996, 16:837-844.
    • (1996) Prenat. Diagn. , vol.16 , pp. 837-844
    • Robinson, W.P.1
  • 22
    • 0032932423 scopus 로고    scopus 로고
    • European Collaborative Research on Mosaicism in CVS. Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD
    • EUCROMIC European Collaborative Research on Mosaicism in CVS. Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD. Prenat. Diagn. 1999, 19:29-35.
    • (1999) Prenat. Diagn. , vol.19 , pp. 29-35
  • 23
    • 4344625842 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (sSMC) in humans
    • Liehr T., et al. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet. Genome Res. 2004, 107:55-67.
    • (2004) Cytogenet. Genome Res. , vol.107 , pp. 55-67
    • Liehr, T.1
  • 24
    • 80054020861 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes and uniparental disomy have a story to tell
    • Liehr T., et al. Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J. Histochem. Cytochem. 2011, 59:842-848.
    • (2011) J. Histochem. Cytochem. , vol.59 , pp. 842-848
    • Liehr, T.1
  • 25
    • 0035746379 scopus 로고    scopus 로고
    • American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy Version 1
    • Shaffer L., et al. American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy Version 1. Genet. Med. 2001, 3:206-211.
    • (2001) Genet. Med. , vol.3 , pp. 206-211
    • Shaffer, L.1
  • 26
    • 0036757284 scopus 로고    scopus 로고
    • Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations
    • Kim S.R., Schaffer L.G. Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations. Genet. Test. 2002, 6:163-168.
    • (2002) Genet. Test. , vol.6 , pp. 163-168
    • Kim, S.R.1    Schaffer, L.G.2
  • 27
    • 0033926871 scopus 로고    scopus 로고
    • Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes
    • Berend S.A., et al. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am. J. Hum. Genet. 2000, 66:1787-1793.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1787-1793
    • Berend, S.A.1
  • 28
    • 33745624611 scopus 로고    scopus 로고
    • Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
    • Langlois S., et al. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat. Diagn. 2006, 26:548-558.
    • (2006) Prenat. Diagn. , vol.26 , pp. 548-558
    • Langlois, S.1
  • 29
    • 85027958154 scopus 로고    scopus 로고
    • Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome
    • Coman D., et al. Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal Diagn. Ther. 2010, 28:117-118.
    • (2010) Fetal Diagn. Ther. , vol.28 , pp. 117-118
    • Coman, D.1
  • 30
    • 34248544965 scopus 로고    scopus 로고
    • Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
    • Liehr T., Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int. J. Mol. Med. 2007, 19:719-731.
    • (2007) Int. J. Mol. Med. , vol.19 , pp. 719-731
    • Liehr, T.1    Weise, A.2
  • 31
    • 0035234557 scopus 로고    scopus 로고
    • Genomic imprinting: parental influence on the genome
    • Reik W., Walter J. Genomic imprinting: parental influence on the genome. Nat. Rev. Genet. 2001, 2:21-32.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 21-32
    • Reik, W.1    Walter, J.2
  • 32
    • 77955903042 scopus 로고    scopus 로고
    • Mechanisms of imprint dysregulation
    • Horsthemke B. Mechanisms of imprint dysregulation. Am. J. Med. Genet. 2010, 154C:321-328.
    • (2010) Am. J. Med. Genet. , vol.154 C , pp. 321-328
    • Horsthemke, B.1
  • 33
    • 33646346610 scopus 로고    scopus 로고
    • Epigenetic deregulation of imprinting in congenital diseases of aberrant growth
    • Delaval K., et al. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays 2006, 28:453-459.
    • (2006) Bioessays , vol.28 , pp. 453-459
    • Delaval, K.1
  • 34
    • 72849140654 scopus 로고    scopus 로고
    • Chromatin mechanisms in genomic imprinting
    • Kacem S., Feil R. Chromatin mechanisms in genomic imprinting. Mamm. Genome 2009, 20:544-556.
    • (2009) Mamm. Genome , vol.20 , pp. 544-556
    • Kacem, S.1    Feil, R.2
  • 35
    • 84903300881 scopus 로고    scopus 로고
    • Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
    • Eggermann T., et al. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing. J. Mol. Med. 2014, 92:769-777.
    • (2014) J. Mol. Med. , vol.92 , pp. 769-777
    • Eggermann, T.1
  • 36
    • 33645463808 scopus 로고    scopus 로고
    • Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
    • Bliek J., et al. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am. J. Hum. Genet. 2006, 78:604-614.
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 604-614
    • Bliek, J.1
  • 37
    • 78149339689 scopus 로고    scopus 로고
    • Epigenotype-phenotype correlations in Silver-Russell syndrome
    • Wakeling E.L., et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J. Med. Genet. 2010, 47:760-768.
    • (2010) J. Med. Genet. , vol.47 , pp. 760-768
    • Wakeling, E.L.1
  • 38
    • 77954664046 scopus 로고    scopus 로고
    • Lessons from imprinted multilocus loss of methylation in human syndromes: a step toward understanding the mechanisms underlying these complex diseases
    • Azzi S., et al. Lessons from imprinted multilocus loss of methylation in human syndromes: a step toward understanding the mechanisms underlying these complex diseases. Epigenetics 2010, 5:373-377.
    • (2010) Epigenetics , vol.5 , pp. 373-377
    • Azzi, S.1
  • 39
    • 80054769799 scopus 로고    scopus 로고
    • Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders
    • Eggermann T., et al. Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders. Epigenomics 2011, 3:625-637.
    • (2011) Epigenomics , vol.3 , pp. 625-637
    • Eggermann, T.1
  • 40
    • 84881661981 scopus 로고    scopus 로고
    • Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
    • Poole R.L., et al. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am. J. Med. Genet. 2013, 161A:2174-2182.
    • (2013) Am. J. Med. Genet. , vol.161 A , pp. 2174-2182
    • Poole, R.L.1
  • 41
    • 84875549355 scopus 로고    scopus 로고
    • Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes
    • Court F., et al. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum. Mutat. 2013, 34:595-602.
    • (2013) Hum. Mutat. , vol.34 , pp. 595-602
    • Court, F.1
  • 42
    • 84930008897 scopus 로고    scopus 로고
    • Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report
    • King J.E., et al. Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. J. Genet. Couns. 2014, 23:724-741.
    • (2014) J. Genet. Couns. , vol.23 , pp. 724-741
    • King, J.E.1
  • 43
    • 33750414558 scopus 로고    scopus 로고
    • A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements
    • Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur. J. Hum. Genet. 2006, 14:1158-1169.
    • (2006) Eur. J. Hum. Genet. , vol.14 , pp. 1158-1169
    • Engel, E.1
  • 44
    • 0031036182 scopus 로고    scopus 로고
    • Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
    • Quan F., et al. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am. J. Hum. Genet. 1997, 60:160-165.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 160-165
    • Quan, F.1
  • 45
    • 84875302195 scopus 로고    scopus 로고
    • Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
    • Fuke T., et al. Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS ONE 2013, 8:e60105.
    • (2013) PLoS ONE , vol.8 , pp. e60105
    • Fuke, T.1
  • 46
    • 84907247416 scopus 로고    scopus 로고
    • Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum
    • Abdelhedi F., et al. Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. Am. J. Clin. Pathol. 2014, 142:248-253.
    • (2014) Am. J. Clin. Pathol. , vol.142 , pp. 248-253
    • Abdelhedi, F.1
  • 47
    • 0035690538 scopus 로고    scopus 로고
    • Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13
    • Mergenthaler S., et al. Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13. Genet. Test. 2001, 5:261-266.
    • (2001) Genet. Test. , vol.5 , pp. 261-266
    • Mergenthaler, S.1
  • 48
    • 0035318134 scopus 로고    scopus 로고
    • No evidence for mosaicism in Silver-Russell syndrome
    • Monk D., et al. No evidence for mosaicism in Silver-Russell syndrome. J. Med. Genet. 2001, 38:E11.
    • (2001) J. Med. Genet. , vol.38 , pp. E11
    • Monk, D.1
  • 49
    • 0142185334 scopus 로고    scopus 로고
    • Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
    • Horsthemke B., et al. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Hum. Mol. Genet. 2003, 12:2723-2732.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2723-2732
    • Horsthemke, B.1
  • 50
    • 84871693194 scopus 로고    scopus 로고
    • Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array
    • Izumi K., et al. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. Am. J. Med. Genet. 2013, 161:166-171.
    • (2013) Am. J. Med. Genet. , vol.161 , pp. 166-171
    • Izumi, K.1
  • 51
    • 84901006970 scopus 로고    scopus 로고
    • Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome
    • Zilina O., et al. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome. Eur. J. Med. Genet. 2014, 57:279-283.
    • (2014) Eur. J. Med. Genet. , vol.57 , pp. 279-283
    • Zilina, O.1
  • 52
    • 84893108449 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance
    • Brioude F., et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm. Res. Paediatr. 2013, 80:457-465.
    • (2013) Horm. Res. Paediatr. , vol.80 , pp. 457-465
    • Brioude, F.1
  • 53
    • 0026773169 scopus 로고
    • Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11
    • Nystrom A., et al. Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11. Eur. J. Pediatr. 1992, 151:511-514.
    • (1992) Eur. J. Pediatr. , vol.151 , pp. 511-514
    • Nystrom, A.1
  • 54
    • 0027793754 scopus 로고
    • Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event
    • Henry I., et al. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur. J. Hum. Genet. 1993, 1:19-29.
    • (1993) Eur. J. Hum. Genet. , vol.1 , pp. 19-29
    • Henry, I.1
  • 55
    • 0034657153 scopus 로고    scopus 로고
    • Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome
    • Itoh N., et al. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome. Am. J. Med. Genet. 2000, 92:111-116.
    • (2000) Am. J. Med. Genet. , vol.92 , pp. 111-116
    • Itoh, N.1
  • 56
    • 84880753966 scopus 로고    scopus 로고
    • Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
    • Kalish J.M., et al. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am. J. Med. Genet. 2013, 161:1929-1939.
    • (2013) Am. J. Med. Genet. , vol.161 , pp. 1929-1939
    • Kalish, J.M.1
  • 57
    • 84894335250 scopus 로고    scopus 로고
    • Clinical utility gene card for: Beckwith-Wiedemann Syndrome
    • Published online July 3, 2013
    • Eggermann T., et al. Clinical utility gene card for: Beckwith-Wiedemann Syndrome. Eur. J. Hum. Genet. 2013, Published online July 3, 2013. 10.1038/ejhg.2013.132.
    • (2013) Eur. J. Hum. Genet.
    • Eggermann, T.1
  • 58
    • 84856467389 scopus 로고    scopus 로고
    • Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell-Silver syndrome
    • Petit F., et al. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell-Silver syndrome. Clin. Genet. 2012, 81:265-271.
    • (2012) Clin. Genet. , vol.81 , pp. 265-271
    • Petit, F.1
  • 59
    • 84870280917 scopus 로고    scopus 로고
    • Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
    • Begemann M., et al. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J. Med. Genet. 2012, 49:547-553.
    • (2012) J. Med. Genet. , vol.49 , pp. 547-553
    • Begemann, M.1
  • 60
    • 84921403306 scopus 로고    scopus 로고
    • Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
    • Published online May 7, 2014
    • Beygo J., et al. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur. J. Hum. Genet. 2014, Published online May 7, 2014. 10.1038/ejhg.2014.72.
    • (2014) Eur. J. Hum. Genet.
    • Beygo, J.1
  • 61
    • 84878830268 scopus 로고    scopus 로고
    • UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays
    • Schroeder C., et al. UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays. Bioinformatics 2013, 15:1562-1564.
    • (2013) Bioinformatics , vol.15 , pp. 1562-1564
    • Schroeder, C.1
  • 62
    • 77951702768 scopus 로고    scopus 로고
    • Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
    • Conlin L.K., et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum. Mol. Genet. 2010, 19:1263-1275.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 1263-1275
    • Conlin, L.K.1
  • 63
    • 0026741249 scopus 로고
    • Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
    • Hsu L.Y., et al. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat. Diagn. 1992, 12:555-573.
    • (1992) Prenat. Diagn. , vol.12 , pp. 555-573
    • Hsu, L.Y.1
  • 64
    • 51849158675 scopus 로고    scopus 로고
    • Complex and segmental uniparental disomy UPDated
    • Kotzot D. Complex and segmental uniparental disomy UPDated. J. Med. Genet. 2008, 45:545-556.
    • (2008) J. Med. Genet. , vol.45 , pp. 545-556
    • Kotzot, D.1
  • 65
    • 84862540114 scopus 로고    scopus 로고
    • Epigenetic and genetic diagnosis of Silver-Russell syndrome
    • Eggermann T., et al. Epigenetic and genetic diagnosis of Silver-Russell syndrome. Expert Rev. Mol. Diagn. 2012, 12:459-471.
    • (2012) Expert Rev. Mol. Diagn. , vol.12 , pp. 459-471
    • Eggermann, T.1
  • 66
    • 84890244971 scopus 로고    scopus 로고
    • CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
    • Brioude F., et al. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. J. Med. Genet. 2013, 50:823-830.
    • (2013) J. Med. Genet. , vol.50 , pp. 823-830
    • Brioude, F.1
  • 67
    • 45249092139 scopus 로고    scopus 로고
    • Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome
    • Bullman H., et al. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J. Med. Genet. 2008, 45:396-399.
    • (2008) J. Med. Genet. , vol.45 , pp. 396-399
    • Bullman, H.1
  • 68
    • 84905570348 scopus 로고    scopus 로고
    • Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
    • Ioannides Y., et al. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J. Med. Genet. 2014, 51:495-501.
    • (2014) J. Med. Genet. , vol.51 , pp. 495-501
    • Ioannides, Y.1
  • 69
    • 84865224464 scopus 로고    scopus 로고
    • Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype
    • Kagami M., et al. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur. J. Hum. Genet. 2012, 20:928-932.
    • (2012) Eur. J. Hum. Genet. , vol.20 , pp. 928-932
    • Kagami, M.1
  • 70
    • 84866077884 scopus 로고    scopus 로고
    • GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?
    • Mantovani G., et al. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?. Horm. Metab. Res. 2012, 44:716-723.
    • (2012) Horm. Metab. Res. , vol.44 , pp. 716-723
    • Mantovani, G.1
  • 71
    • 18744405678 scopus 로고    scopus 로고
    • Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis
    • Velissariou V., et al. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur. J. Hum. Genet. 2002, 10:694-698.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 694-698
    • Velissariou, V.1


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