Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations
作者： Robert Wallerstein , Ming-Tsung Yu , Richard L. Neu , Peter Benn , Catherine Lee Bowen
DOI: 10.1002/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K
关键词: Cytogenetics 、 High resolution ultrasound 、 Trisomy 、 Amniocentesis 、 Prenatal diagnosis 、 Genetics 、 Biology 、 Aneuploidy 、 Clinical correlation 、 Karyotype 、 Gynecology
摘要: Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American …
elsevier.com
sci-hub.se 参考文章(10)
B C McGillivray, D K Kalousek, I J Barrett, Placental mosaicism and intrauterine survival of trisomies 13 and 18. American Journal of Human Genetics. ,vol. 44, pp. 338- 343 ,(1989)
DH Ledbetter, E Engel, Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis Human Molecular Genetics. ,vol. 4, pp. 1757- 1764 ,(1995) , 10.1093/HMG/4.SUPPL_1.1757
Lillian Y. F. Hsu, Sara Kaffe, Edmund C. Jenkins, Lita Alonso, Peter A. Benn, Karen David, Kurt Hirschhorn, Ernest Lieber, Alan Shanske, Lawrence R. Shapiro, Edward Schutta, Dorothy Warburton, Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenatal Diagnosis. ,vol. 12, pp. 555- 573 ,(1992) , 10.1002/PD.1970120702
Lillian Y. F. Hsu, Sara Kaffe, Theresa E. Perlis, A revisit of trisomy 20 mosaicism in prenatal diagnosis--an overview of 103 cases. Prenatal Diagnosis. ,vol. 11, pp. 7- 15 ,(1991) , 10.1002/PD.1970110103
H. Juppner, E. Schipani, M. Bastepe, D. E. C. Cole, M. L. Lawson, M. Mannstadt, G. N. Hendy, H. Plotkin, H. Koshiyama, T. Koh, J. D. Crawford, B. R. Olsen, M. Vikkula, The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3 Proceedings of the National Academy of Sciences of the United States of America. ,vol. 95, pp. 11798- 11803 ,(1998) , 10.1073/PNAS.95.20.11798
LILLIAN Y. F. HSU, MING-TSUNG YU, KATHLEEN E. RICHKIND, DANIEL L. VAN DYKE, BARBARA F. CRANDALL, DEBRA F. SAXE, GABRIEL S. KHODR, MICHAEL MENNUTI, GAIL STETTEN, WAYNE A. MILLER, JEAN H. PRIEST, INCIDENCE AND SIGNIFICANCE OF CHROMOSOME MOSAICISM INVOLVING AN AUTOSOMAL STRUCTURAL ABNORMALITY DIAGNOSED PRENATALLY THROUGH AMNIOCENTESIS: A COLLABORATIVE STUDY Prenatal Diagnosis. ,vol. 16, pp. 1- 28 ,(1996) , 10.1002/(SICI)1097-0223(199601)16:1<1::AID-PD816>3.0.CO;2-W
Peter K. Rogan, Darrin W. Sabol, Hope H. Punnett, Maternal uniparental disomy of chromosome 21 in a normal child. American Journal of Medical Genetics. ,vol. 83, pp. 69- 71 ,(1999) , 10.1002/(SICI)1096-8628(19990305)83:1<69::AID-AJMG14>3.0.CO;2-Q
LILLIAN Y. F. HSU, MING-TSUNG YU, RICHARD L. NEU, DANIEL L. VAN DYKE, PETER A. BENN, CHRISTY L. BRADSHAW, LISA G. SHAFFER, RODNEY R. HIGGINS, GABRIEL S. KHODR, CYNTHIA C. MORTON, HUNGSHU WANG, ARTHUR R. BROTHMAN, DIANNE CHADWICK, CHRISTINE M. DISTECHE, LAUREN S. JENKINS, DAGMAR K. KALOUSEK, TAPIO J. PANTZAR, PHILIP WYATT, RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOME OTHER THAN CHROMOSOMES 13, 18, 20, AND 21: KARYOTYPE/PHENOTYPE CORRELATIONS Prenatal Diagnosis. ,vol. 17, pp. 201- 242 ,(1997) , 10.1002/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO;2-H
Orit Reish, Baruch Wolach, Aliza Amiel, Inbal Kedar, Tzipora Dolfin, Moshe Fejgin, Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding? American Journal of Medical Genetics. ,vol. 77, pp. 72- 75 ,(1998) , 10.1002/(SICI)1096-8628(19980428)77:1<72::AID-AJMG15>3.0.CO;2-L
Irma Järvelä, Minna Savukoski, Pirkko Ämmälä, Harriet Von Koskull, Prenatally detected paternal uniparental chromosome 13 isodisomy. Prenatal Diagnosis. ,vol. 18, pp. 1169- 1173 ,(1998) , 10.1002/(SICI)1097-0223(199811)18:11<1169::AID-PD409>3.0.CO;2-T