Zobrazeno 1 - 10
of 22
pro vyhledávání: '"D. P. Duckett"'
Publikováno v:
Journal of Intellectual Disability Research. 34:81-86
A profoundly mentally handicapped patient is described with the karyotype 47,X, fra (X) (q27), + 21. Her phenotype demonstrates features of both Down's Syndrome and fragilc-X syndrome. The authors believe only one other similar case has been describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3d3e49b38760390d4ed1b374f36696
https://doi.org/10.1111/j.1365-2788.1990.tb01518.x
https://doi.org/10.1111/j.1365-2788.1990.tb01518.x
Autor:
R. de Chazal, D. P. Duckett, E. C. Roper, David J. Taylor, C. A. Oppenheimer, Justin C. Konje
Publikováno v:
Prenatal Diagnosis. 19:803-807
Amniocentesis remains the most common prenatal diagnostic invasive procedure for fetal karyotyping. During counselling prior to this procedure miscarriage rates are often quoted as a single figure. In this review of 2924 amniocenteses, we report that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1b1d6d55f191a4e4d354eea1e0815da
https://doi.org/10.1002/(sici)1097-0223(199909)19:9<803::aid-pd638>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199909)19:9<803::aid-pd638>3.0.co
Publikováno v:
Journal of Medical Genetics. 35:425-428
A 4 year old female referred with developmental delay was found to have two de novo abnormal derivatives of chromosome 15, a supernumerary inverted duplicated marker chromosome (inv dup(15)) and an interstitial triplication of proximal 15q11-q13 or 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a484f5d649a892beb2d1fa79a551a5
https://doi.org/10.1136/jmg.35.5.425
https://doi.org/10.1136/jmg.35.5.425
Invasive testing for the karyotyping of mid-trimester intrauterine fetal death (IUFD): a pilot study
Autor:
Justin C. Konje, Edmund S. Howarth, D. P. Duckett, K. A. Healey, David J. Taylor, I. W. Scudamore
Publikováno v:
Prenatal Diagnosis. 22:453-455
Introduction Aneuploidy remains a common cause of fetal loss after the first trimester. Conventional karyotyping from fetal solid tissues post-delivery unfortunately has a poor success rate particularly where the fetus is macerated. To overcome this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2968ca9a22b6220b401f9e1b96724ea7
https://doi.org/10.1002/pd.339
https://doi.org/10.1002/pd.339
Autor:
P. E. C. Brenchley, S. W. D'souza, D. Braddock, G M Taylor, A. J. Robson, D. P. Duckett, W. D. Fergusson
Publikováno v:
Clinical and Experimental Immunology. 81:501-506
SUMMARY Monosomy 21 (M21) is a rare aneuploid condition which in certain cases leads to reduced levels of chromosome 21 gene products. We have prepared an Epstein-Barr virus lymphoblastoid cell-line (LCL) from patient with M21 who has immunological a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b74a5e414c4ae4d8b5946cdbb3436e
https://doi.org/10.1111/j.1365-2249.1990.tb05363.x
https://doi.org/10.1111/j.1365-2249.1990.tb05363.x
Publikováno v:
Prenatal Diagnosis. 10:261-264
A de novo case of 'pure' trisomy 14q21----qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25-year-old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::118991e3e81852e958e73601df1209bf
https://doi.org/10.1002/pd.1970100409
https://doi.org/10.1002/pd.1970100409
Publikováno v:
Ophthalmic Paediatrics and Genetics. 11:1-6
Patients with Angelman's syndrome have been reported to have ocular hypopigmentation and a number are now known to have a microdeletion of chromosome 15q 11----13. Detailed ocular examination of eight new cases revealed normal visual acuity and fovea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54e328cc26ec052f7c78a9c1f98a5f8
https://doi.org/10.3109/13816819009012942
https://doi.org/10.3109/13816819009012942
Publikováno v:
Prenatal diagnosis. 19(9)
Amniocentesis remains the most common prenatal diagnostic invasive procedure for fetal karyotyping. During counselling prior to this procedure miscarriage rates are often quoted as a single figure. In this review of 2924 amniocenteses, we report that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6abbe06227da08a4b64adc3f5b3a5f13
https://pubmed.ncbi.nlm.nih.gov/10719337
https://pubmed.ncbi.nlm.nih.gov/10719337
Publikováno v:
BioTechniques. 14(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a288eec447e8fd1165202fb5746e40
https://pubmed.ncbi.nlm.nih.gov/8476599
https://pubmed.ncbi.nlm.nih.gov/8476599
Publikováno v:
Annales de genetique. 35(2)
A female fetus with a rare de novo chromosome abnormality involving mosaicism with two cell lines with trisomy 13 and presumptive partial monosomy 13 due to a Robertsonian translocation and ring chromosome, respectively, was prenatally diagnosed. On
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a57234304d872154906f764b0f028cb
https://pubmed.ncbi.nlm.nih.gov/1524408
https://pubmed.ncbi.nlm.nih.gov/1524408