Zobrazeno 1 - 10
of 124
pro vyhledávání: '"K, Taysi"'
Publikováno v:
Clinical Genetics. 18:173-176
Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X-linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac2fad0f6851737de3b8bdfe658a39f0
https://doi.org/10.1111/j.1399-0004.1980.tb00866.x
https://doi.org/10.1111/j.1399-0004.1980.tb00866.x
Publikováno v:
Journal of Medical Genetics. 19:144-148
A 3 1/2-year-old female with clinical features of Down's syndrome was found to have extra chromosome material on the long arm of one of the X chromosomes, 46,XXq+. The parental karyotypes were normal. In the light of the clinical features of the prob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf1fd6198c843f24aecad7b766c5fef
https://doi.org/10.1136/jmg.19.2.144
https://doi.org/10.1136/jmg.19.2.144
Publikováno v:
Medical and Pediatric Oncology. 8:237-242
The clinical, hematologic, and cytogenetic findings are described in a patient who developed clinical and hematologic features of acute myelogenous leukemia (AML) after a three-year period of observation with unexplained thrombocytopenia. Five months
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbf798634314a88c9ee1f29aa0ebb62
https://doi.org/10.1002/mpo.2950080305
https://doi.org/10.1002/mpo.2950080305
Autor:
J. N. Peeden, P. Scarbrough, K. Taysi, R. S. Wilroy, S. Finley, F. Luthardt, P. Martens, P. N. Howard-Peebles, John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 16:563-573
We present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype-karyotype correlation in patients with a ring 6.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83b4d7c3a7ac2c88d482df3d551ea1e
https://doi.org/10.1002/ajmg.1320160413
https://doi.org/10.1002/ajmg.1320160413
Publikováno v:
The Journal of Pediatrics. 76:880-885
Cytogenetic studies were performed on 8 persons with mosaic mongolism (46/47, 21+). It was found that the leukocyte culture can be used with confidence to determine the proportion of trisomic and normal cells at a single point in the life of the indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d4a235602049027d8cf0a18d71c957
https://doi.org/10.1016/s0022-3476(70)80369-9
https://doi.org/10.1016/s0022-3476(70)80369-9
Publikováno v:
Acta Paediatrica. 68:445-447
The clinical and cytogenetic findings of a case with partial trisomy of chromosome 15 are presented. Dysmorphic features of this newly recognized syndrome are too nonspecific and mild to permit the physician to make clinical diagnosis or to consider
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd6e42358895ff205e6e8cfa72b22cc
https://doi.org/10.1111/j.1651-2227.1979.tb05036.x
https://doi.org/10.1111/j.1651-2227.1979.tb05036.x
Publikováno v:
Acta paediatrica Scandinavica. 63(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::183c7f4ba6a30041901ddcd2c7a4c6fa
https://pubmed.ncbi.nlm.nih.gov/4850902
https://pubmed.ncbi.nlm.nih.gov/4850902
Publikováno v:
Orthopaedic review. 16(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb8155603d0d749c4a93a75e88f1248a
https://pubmed.ncbi.nlm.nih.gov/3453994
https://pubmed.ncbi.nlm.nih.gov/3453994
Autor:
K, Taysi
Publikováno v:
American journal of medical genetics. 14(2)
We present a phenotypically normal woman with del(X)(q26) with no evidence of mosaicism, who had two pregnancies resulting in two live-born infants. Her first child had trisomy 21 Down syndrome and the del(X)(q26). To our knowledge, this woman is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41516548edbf82c108f87a99a3084db1
https://pubmed.ncbi.nlm.nih.gov/6188379
https://pubmed.ncbi.nlm.nih.gov/6188379
Publikováno v:
Birth defects original article series. 14(6C)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::535d50160d012c43909ac6ef4a2498af
https://pubmed.ncbi.nlm.nih.gov/728588
https://pubmed.ncbi.nlm.nih.gov/728588