Three different origins for apparent triploid/diploid mosaics
Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA...
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Published in | Prenatal diagnosis Vol. 23; no. 7; pp. 529 - 534 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
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Chichester, UK
John Wiley & Sons, Ltd
01.07.2003
Wiley |
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Abstract | Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non‐mosaic triploids have a different origin from these mosaics with simple digyny or diandry documented in many cases. Three different mechanisms of origin for these apparent mosaics were detected: (1) chimaerism with karyotypes from two separate zygotes developing into a single individual, (2) delayed digyny, by incorporation of a pronucleus from a second polar body into one embryonic blastomere, and (3) delayed dispermy, similarly, by incorporation of a second sperm pronucleus into one embryonic blastomere. In three of the four cases, there was segregation within the embryos of triploid and diploid cell lines into different tissues from which DNA could be isolated. In case 2 originating by digyny, the same sperm allele at each locus could be detected in both triploid and diploid tissues, which is supportive evidence for the involvement of a single sperm and for true mosaicism rather than chimaerism. Similarly, in case 4 originating by dispermy, the same single ovum allele at each locus could be detected in diploid and triploid tissues, confirming mosaicism. In the chimaeric case (case 3), the diploid line had the karyotype 47,XY,+16 while the triploid line was 69,XXY. This suggests a chimaera, since, in a true mosaic, the triploid line should also contain the additional chromosome 16. Supporting the interpretation of a chimaeric origin for this case, the DNA data showed that the triploidy was consistent with MII non‐disjunction (i.e. involving a diploid ovum). In the mosaic cases (1, 2, 4), there was no evidence of the involvement of a diploid sperm or a diploid ova, and in triploid/diploid mosaicism, an origin from a diploid gamete is excluded, since all such conceptuses would be simple triploids. In one of these triploid/diploid mosaics detected at prenatal diagnosis by CVS, the triploid line seemed to be sequestered into the extra‐fetal tissues (confined placental mosaicism). This fetus developed normally and a normal infant was born with no evidence of triploidy in newborn blood or cord blood at three months of age. Copyright © 2003 John Wiley & Sons, Ltd. |
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AbstractList | Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non‐mosaic triploids have a different origin from these mosaics with simple digyny or diandry documented in many cases. Three different mechanisms of origin for these apparent mosaics were detected: (1) chimaerism with karyotypes from two separate zygotes developing into a single individual, (2) delayed digyny, by incorporation of a pronucleus from a second polar body into one embryonic blastomere, and (3) delayed dispermy, similarly, by incorporation of a second sperm pronucleus into one embryonic blastomere. In three of the four cases, there was segregation within the embryos of triploid and diploid cell lines into different tissues from which DNA could be isolated. In case 2 originating by digyny, the same sperm allele at each locus could be detected in both triploid and diploid tissues, which is supportive evidence for the involvement of a single sperm and for true mosaicism rather than chimaerism. Similarly, in case 4 originating by dispermy, the same single ovum allele at each locus could be detected in diploid and triploid tissues, confirming mosaicism. In the chimaeric case (case 3), the diploid line had the karyotype 47,XY,+16 while the triploid line was 69,XXY. This suggests a chimaera, since, in a true mosaic, the triploid line should also contain the additional chromosome 16. Supporting the interpretation of a chimaeric origin for this case, the DNA data showed that the triploidy was consistent with MII non‐disjunction (i.e. involving a diploid ovum). In the mosaic cases (1, 2, 4), there was no evidence of the involvement of a diploid sperm or a diploid ova, and in triploid/diploid mosaicism, an origin from a diploid gamete is excluded, since all such conceptuses would be simple triploids. In one of these triploid/diploid mosaics detected at prenatal diagnosis by CVS, the triploid line seemed to be sequestered into the extra‐fetal tissues (confined placental mosaicism). This fetus developed normally and a normal infant was born with no evidence of triploidy in newborn blood or cord blood at three months of age. Copyright © 2003 John Wiley & Sons, Ltd. Abstract Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non‐mosaic triploids have a different origin from these mosaics with simple digyny or diandry documented in many cases. Three different mechanisms of origin for these apparent mosaics were detected: (1) chimaerism with karyotypes from two separate zygotes developing into a single individual, (2) delayed digyny, by incorporation of a pronucleus from a second polar body into one embryonic blastomere, and (3) delayed dispermy, similarly, by incorporation of a second sperm pronucleus into one embryonic blastomere. In three of the four cases, there was segregation within the embryos of triploid and diploid cell lines into different tissues from which DNA could be isolated. In case 2 originating by digyny, the same sperm allele at each locus could be detected in both triploid and diploid tissues, which is supportive evidence for the involvement of a single sperm and for true mosaicism rather than chimaerism. Similarly, in case 4 originating by dispermy, the same single ovum allele at each locus could be detected in diploid and triploid tissues, confirming mosaicism. In the chimaeric case (case 3), the diploid line had the karyotype 47,XY,+16 while the triploid line was 69,XXY. This suggests a chimaera, since, in a true mosaic, the triploid line should also contain the additional chromosome 16. Supporting the interpretation of a chimaeric origin for this case, the DNA data showed that the triploidy was consistent with MII non‐disjunction (i.e. involving a diploid ovum). In the mosaic cases (1, 2, 4), there was no evidence of the involvement of a diploid sperm or a diploid ova, and in triploid/diploid mosaicism, an origin from a diploid gamete is excluded, since all such conceptuses would be simple triploids. In one of these triploid/diploid mosaics detected at prenatal diagnosis by CVS, the triploid line seemed to be sequestered into the extra‐fetal tissues (confined placental mosaicism). This fetus developed normally and a normal infant was born with no evidence of triploidy in newborn blood or cord blood at three months of age. Copyright © 2003 John Wiley & Sons, Ltd. Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non-mosaic triploids have a different origin from these mosaics with simple digyny or diandry documented in many cases. Three different mechanisms of origin for these apparent mosaics were detected: (1) chimaerism with karyotypes from two separate zygotes developing into a single individual, (2) delayed digyny, by incorporation of a pronucleus from a second polar body into one embryonic blastomere, and (3) delayed dispermy, similarly, by incorporation of a second sperm pronucleus into one embryonic blastomere. In three of the four cases, there was segregation within the embryos of triploid and diploid cell lines into different tissues from which DNA could be isolated. In case 2 originating by digyny, the same sperm allele at each locus could be detected in both triploid and diploid tissues, which is supportive evidence for the involvement of a single sperm and for true mosaicism rather than chimaerism. Similarly, in case 4 originating by dispermy, the same single ovum allele at each locus could be detected in diploid and triploid tissues, confirming mosaicism. In the chimaeric case (case 3), the diploid line had the karyotype 47,XY,+16 while the triploid line was 69,XXY. This suggests a chimaera, since, in a true mosaic, the triploid line should also contain the additional chromosome 16. Supporting the interpretation of a chimaeric origin for this case, the DNA data showed that the triploidy was consistent with MII non-disjunction (i.e. involving a diploid ovum). In the mosaic cases (1, 2, 4), there was no evidence of the involvement of a diploid sperm or a diploid ova, and in triploid/diploid mosaicism, an origin from a diploid gamete is excluded, since all such conceptuses would be simple triploids. In one of these triploid/diploid mosaics detected at prenatal diagnosis by CVS, the triploid line seemed to be sequestered into the extra-fetal tissues (confined placental mosaicism). This fetus developed normally and a normal infant was born with no evidence of triploidy in newborn blood or cord blood at three months of age. |
Author | Wu, Zhanhe Jackson, Julianne Daniel, Art Darmanian, Artur Collins, Felicity |
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Cites_doi | 10.1111/j.1399-0004.1975.tb04403.x 10.1002/1097-0223(200103)21:3<234::AID-PD37>3.0.CO;2-N 10.1097/00006250-199310000-00061 10.1002/ajmg.1320380407 10.1038/sj.ejhg.5200572 10.1093/humrep/17.1.5 10.1136/jmg.33.7.529 10.1086/302951 10.1002/pd.164 10.1002/ajmg.1320520314 10.1136/jmg.30.7.597 10.1002/(SICI)1096-8628(19991203)87:4<306::AID-AJMG5>3.0.CO;2-6 10.1093/nar/16.3.1215 10.1136/jmg.34.3.246 10.1007/BF00281030 10.1002/(SICI)1097-0223(199608)16:8<705::AID-PD930>3.0.CO;2-6 |
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Keywords | triploid/diploid mosaics digynic triploid/diploid chimaerism triploidy mosaicism diandric |
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References | Sarno AP, Moorman AJ, Kalousek DK. 1993. Partial molar pregnancy with fetal survival. An unusual example of confined placental mosaicism. Obstet Gynecol 82(4): 716-719. Egozcue S, Blanco J, Vidal F, Egozcue J. 2002. Diploid sperm and the origin of triploidy. Hum Reprod 17(1): 5-7. Kalousek D, Vekemans M. 1996. Confined placental mosaicism. J Med Genet 33: 529-533. Dean J, Cohen G, Kemp J, et al. 1997. Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child. J Med Genet 34: 246-249. Dewald G, Alvarez MN, Clouthier MD, Kelalis PP, Gordon H. 1975. A diploid-triploid human mosaic with cytogenetic evidence of double fertilization. Clin Genet 8: 149-160. Leschot NJ, Schuring-Blom GH, Prooijen-Knegt AC, et al. 1996. The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells. Prenat Diagn 16(8): 705-712. McFadden DE, Kalousek DK. 1991. Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of extra haploid set. Am J Med Genet 38: 535-538. Niebuhr E. 1974. Triploidy in man. Cytogenetical and clinical aspects. Humangenetik 21: 103-125. Daniel A, Wu Z, Bennetts B, et al. 2001. Karyotype, Phenotype and parental origin in 19 cases of triploidy. Prenat Diagn 21: 1034-1048. Darnell JE, Lodish HF, Baltimore D. 1986. In Molecular Cell Biology, Scientific American Books. W. H. Freeman: New York, NY. Edwards MJ, Park JP, Wurster-Hill DH, Graham Jr JM. 1994. Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy. Am J Med Genet 52: 324-330. Hasegawa T, Harada N, Ikeda K, et al. 1999. Digynic triploid infant surviving for 46 days. Am J Med Genet 87(4): 306-310. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16: 1215. Rosenbusch B. 2001. Digynic triploidy: possible mechanisms. Prenat Diagn 21 234. Muller U, Weber J, Berry P, Kupke KG. 1993. Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. J Med Genet 30: 597-600. Zaragoza MV, Surti U, Redline RW, Millie E, Chakravarti A, Hassold TJ. 2000. Parental origin and phenotype of triploidy in spontaneous abortions. Predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet 66: 1807-1820. Baumer A, Balmer D, Binkert F, Schinzel A. 2000. Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur J Hum Genet 8: 911-917. 2002; 17 1991; 38 1974; 21 1993; 82 2000; 66 2000; 8 1988; 16 1997; 34 1993; 30 1986 1999; 87 1975; 8 1996; 16 1994; 52 2001; 21 1996; 33 Darnell JE (e_1_2_1_4_1) 1986 e_1_2_1_7_1 e_1_2_1_8_1 e_1_2_1_5_1 e_1_2_1_6_1 e_1_2_1_3_1 e_1_2_1_12_1 e_1_2_1_13_1 e_1_2_1_10_1 e_1_2_1_2_1 e_1_2_1_11_1 e_1_2_1_16_1 e_1_2_1_17_1 e_1_2_1_14_1 e_1_2_1_15_1 e_1_2_1_9_1 e_1_2_1_18_1 |
References_xml | – volume: 8 start-page: 149 year: 1975 end-page: 160 article-title: A diploid‐triploid human mosaic with cytogenetic evidence of double fertilization publication-title: Clin Genet – year: 1986 – volume: 33 start-page: 529 year: 1996 end-page: 533 article-title: Confined placental mosaicism publication-title: J Med Genet – volume: 21 start-page: 234 year: 2001 article-title: Digynic triploidy: possible mechanisms publication-title: Prenat Diagn – volume: 82 start-page: 716 issue: 4 year: 1993 end-page: 719 article-title: Partial molar pregnancy with fetal survival. An unusual example of confined placental mosaicism publication-title: Obstet Gynecol – volume: 34 start-page: 246 year: 1997 end-page: 249 article-title: Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child publication-title: J Med Genet – volume: 16 start-page: 1215 year: 1988 article-title: A simple salting out procedure for extracting DNA from human nucleated cells publication-title: Nucl Acids Res – volume: 16 start-page: 705 issue: 8 year: 1996 end-page: 712 article-title: The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells publication-title: Prenat Diagn – volume: 30 start-page: 597 year: 1993 end-page: 600 article-title: Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy publication-title: J Med Genet – volume: 66 start-page: 1807 year: 2000 end-page: 1820 article-title: Parental origin and phenotype of triploidy in spontaneous abortions. Predominance of diandry and association with the partial hydatidiform mole publication-title: Am J Hum Genet – volume: 52 start-page: 324 year: 1994 end-page: 330 article-title: Mixoploidy in humans: two surviving cases of diploid‐tetraploid mixoploidy and comparison with diploid‐triploid mixoploidy publication-title: Am J Med Genet – volume: 87 start-page: 306 issue: 4 year: 1999 end-page: 310 article-title: Digynic triploid infant surviving for 46 days publication-title: Am J Med Genet – volume: 17 start-page: 5 issue: 1 year: 2002 end-page: 7 article-title: Diploid sperm and the origin of triploidy publication-title: Hum Reprod – volume: 38 start-page: 535 year: 1991 end-page: 538 article-title: Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of extra haploid set publication-title: Am J Med Genet – volume: 21 start-page: 103 year: 1974 end-page: 125 article-title: Triploidy in man. Cytogenetical and clinical aspects publication-title: Humangenetik – volume: 8 start-page: 911 year: 2000 end-page: 917 article-title: Parental origin and mechanisms of formation of triploidy: a study of 25 cases publication-title: Eur J Hum Genet – volume: 21 start-page: 1034 year: 2001 end-page: 1048 article-title: Karyotype, Phenotype and parental origin in 19 cases of triploidy publication-title: Prenat Diagn – ident: e_1_2_1_6_1 doi: 10.1111/j.1399-0004.1975.tb04403.x – ident: e_1_2_1_16_1 doi: 10.1002/1097-0223(200103)21:3<234::AID-PD37>3.0.CO;2-N – ident: e_1_2_1_17_1 doi: 10.1097/00006250-199310000-00061 – ident: e_1_2_1_12_1 doi: 10.1002/ajmg.1320380407 – ident: e_1_2_1_2_1 doi: 10.1038/sj.ejhg.5200572 – volume-title: Molecular Cell Biology year: 1986 ident: e_1_2_1_4_1 contributor: fullname: Darnell JE – ident: e_1_2_1_8_1 doi: 10.1093/humrep/17.1.5 – ident: e_1_2_1_10_1 doi: 10.1136/jmg.33.7.529 – ident: e_1_2_1_18_1 doi: 10.1086/302951 – ident: e_1_2_1_3_1 doi: 10.1002/pd.164 – ident: e_1_2_1_7_1 doi: 10.1002/ajmg.1320520314 – ident: e_1_2_1_14_1 doi: 10.1136/jmg.30.7.597 – ident: e_1_2_1_9_1 doi: 10.1002/(SICI)1096-8628(19991203)87:4<306::AID-AJMG5>3.0.CO;2-6 – ident: e_1_2_1_13_1 doi: 10.1093/nar/16.3.1215 – ident: e_1_2_1_5_1 doi: 10.1136/jmg.34.3.246 – ident: e_1_2_1_15_1 doi: 10.1007/BF00281030 – ident: e_1_2_1_11_1 doi: 10.1002/(SICI)1097-0223(199608)16:8<705::AID-PD930>3.0.CO;2-6 |
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Snippet | Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually... Abstract Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an... |
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SubjectTerms | Biological and medical sciences diandric digynic Female Humans Infant, Newborn Karyotyping Male Medical sciences Microsatellite Repeats Mosaicism - diagnosis Mosaicism - genetics Parents Ploidies Polymerase Chain Reaction Pregnancy Prenatal Diagnosis triploid/diploid chimaerism triploid/diploid mosaics triploidy mosaicism |
Title | Three different origins for apparent triploid/diploid mosaics |
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