Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Lillian Y. F. Hsu"'
Publikováno v:
Clinical Genetics. 3:295-302
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome) is described in a mother and 3 of her 4 children. Autosomal dominant inheritance was suggested in this family. However, genetic heterogeneity may exist in this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e878885e154520da47a12e88ab521e7
https://doi.org/10.1111/j.1399-0004.1972.tb01461.x
https://doi.org/10.1111/j.1399-0004.1972.tb01461.x
Publikováno v:
Clinical Genetics. 15:267-272
Three cases of trisomy 20 mosaicism in amniotic fluid cell cultures are described. Two of the pregnancies resulted in normal full-term infants. The third pregnancy was terminated and revealed a phenotypically normal fetus. A review of five previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa89687cd6b2221a3d3e4a3195c7f6d
https://doi.org/10.1111/j.1399-0004.1979.tb00978.x
https://doi.org/10.1111/j.1399-0004.1979.tb00978.x
Publikováno v:
Clinical Genetics. 14:90-97
Monozygotic twins were born with the phenotypical appearance of the trisomy 8 syndrome. The first twin, a stillborn, had autopsy findings suggestive of trisomy 8 syndrome. Cultured lymphocytes and skin fibroblasts of the second, liveborn twin, showed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5f90e0773982fbfd0fe3fe891abc5c
https://doi.org/10.1111/j.1399-0004.1978.tb02112.x
https://doi.org/10.1111/j.1399-0004.1978.tb02112.x
Publikováno v:
Clinical Genetics. 2:170-176
Familial de Lange syndrome with 3 affected siblings in a sibship of 4 is described. The parents were phenotypically normal. No parental consanguinity was demonstrated. The karyotypes of the affected siblings were normal. Although the etiology of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71d44ef3bde6f43dc145983c10de9a7c
https://doi.org/10.1111/j.1399-0004.1971.tb00274.x
https://doi.org/10.1111/j.1399-0004.1971.tb00274.x
Publikováno v:
Clinical Genetics. 12:323-328
The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46,XX,del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c517f1f582df31ec56825624379d203f
https://doi.org/10.1111/j.1399-0004.1977.tb00950.x
https://doi.org/10.1111/j.1399-0004.1977.tb00950.x
Publikováno v:
Clinical Genetics. 6:258-264
In studying the bone marrow chromosomes of patients with polycythemia vera (PCV) and chronic myelogenous leukemia (CML), we have recently identified, by the current banding techniques, two cases of acquired trisomy 8. One was a patient with typical P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd1c90631aab92ab271eabd3ee415248
https://doi.org/10.1111/j.1399-0004.1974.tb02087.x
https://doi.org/10.1111/j.1399-0004.1974.tb02087.x
Publikováno v:
Clinical Genetics. 15:327-331
We have identified trisomy 13 in two additional patients with hematologic malignancies involving the hematopoietic stem cell: a 75–year–old female with acute myelocytic leukemia and a 64–year–old female with agnogenic myelofibrosis and myeloi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38d4979f9050997e7f1b5da93c6745c7
https://doi.org/10.1111/j.1399-0004.1979.tb01742.x
https://doi.org/10.1111/j.1399-0004.1979.tb01742.x
Autor:
Hungshu Wang, Lorraine F. Meisner, Lisa G. Shaffer, Shivanand R. Patil, Douglas W. Hershey, Lillian Y. F. Hsu, Gail Stetten, Christine M. Disteche, Fran Williams, Rodney R. Higgins, Colleen Jackson-Cook, Barbara F. Crandall, Gregory A. Mengden, Leonard J. Sciorra, Ann Leslie Zaslav, Roger P. Donahue, Elizabeth Keitges, Robert Wallerstein, Gabriel S. Khodr, Richard L. Neu, Frederick W. Luthardt, Daniel L. Van Dyke, Catherine Lee Bowen, Peter Benn, Lauren S. Jenkins, Maria Y. Rodriguez, Ming Tsung Yu, Chyi-Chyang Lin, Betty Harrison
Publikováno v:
Prenatal Diagnosis. 20:103-122
Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::712156e319e1793d86662027c03677bc
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
Autor:
Tapio J. Pantzar, Philip Wyatt, Lillian Y. F. Hsu, Lisa G. Shaffer, Arthur R. Brothman, Gabriel S. Khodr, Christine M. Disteche, Hungshu Wang, Christy Bradshaw, Richard L. Neu, Rodney R. Higgins, Dagmar K. Kalousek, Peter Benn, Dianne Chadwick, Cynthia C. Morton, Lauren S. Jenkins, Ming Tsung Yu, Daniel L. Van Dyke
Publikováno v:
Prenatal Diagnosis. 17:201-242
In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bec039eca50b3ac5e9c1d6a5f8ab7158
https://doi.org/10.1002/(sici)1097-0223(199703)17:3<201::aid-pd56>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199703)17:3<201::aid-pd56>3.0.co
Autor:
Michael T. Mennuti, Debra Saxe, Lillian Y. F. Hsu, Jean H. Priest, Gabriel S. Khodr, Gail Stetten, Daniel L. Van Dyke, Kathleen E. Richkind, Wayne A. Miller, Ming Tsung Yu, Barbara F. Crandall
Publikováno v:
Prenatal Diagnosis. 16:1-28
Among 179,663 prenatal diagnosis cases collected from ten institutions and two publications, 555 (0.3 per cent) were diagnosed as having chromosome mosaicism. Of these, 57 (10.3 per cent) were mosaic for an autosomal structural abnormality, 28 (5 per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::794bf669046f1b9a74fef725e00f7d8f
https://doi.org/10.1002/(sici)1097-0223(199601)16:1<1::aid-pd816>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199601)16:1<1::aid-pd816>3.0.co