Zobrazeno 1 - 8
of 8
pro vyhledávání: '"J P Willner"'
Publikováno v:
American journal of medical genetics. 95(4)
Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d5253f082f3aefc248dadc6b204ca49
https://pubmed.ncbi.nlm.nih.gov/11186894
https://pubmed.ncbi.nlm.nih.gov/11186894
Publikováno v:
Prenatal diagnosis. 18(8)
Mosaicism for an unbalanced reciprocal translocation was identified in cultured amniocytes of a 16-week-old fetus; mos46,XX,der(4)t(4;5)(q34;q12)/46,XX. Parental karyotypes were normal, indicating a de novo origin of the unbalanced translocation in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85a283477ba109a8ed5db36490d56b3d
https://pubmed.ncbi.nlm.nih.gov/9742579
https://pubmed.ncbi.nlm.nih.gov/9742579
Autor:
J P, Willner
Publikováno v:
The Mount Sinai journal of medicine, New York. 65(3)
Rapid and safe prenatal diagnosis has become the standard of care in high-risk pregnancy. The safety and reliability of prenatal diagnosis by mid-trimester amniocentesis and first-trimester chorionic villus sampling (CVS) are reviewed, and accepted m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a7c0d551b8cb69e8ce6ec4692d5fc15
https://pubmed.ncbi.nlm.nih.gov/9615567
https://pubmed.ncbi.nlm.nih.gov/9615567
Autor:
P, Ashton-Prolla, I F, Gershin, A, Babu, R L, Neu, R E, Zinberg, J P, Willner, R J, Desnick, P D, Cotter
Publikováno v:
American journal of medical genetics. 73(4)
An apparently unbalanced karyotype containing an abnormal chromosome 11 was identified in a 16-week female fetus by analysis of cultured amniocytes. Fluorescence in situ hybridization (FISH) with a chromosome 11 paint identified the presence of an in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c9c45e536491fac14aefc21b8f27b962
https://pubmed.ncbi.nlm.nih.gov/9415476
https://pubmed.ncbi.nlm.nih.gov/9415476
Publikováno v:
American journal of medical genetics. 71(3)
A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b68e942b8e6113ef8e2abadf0b529fa6
https://pubmed.ncbi.nlm.nih.gov/9268103
https://pubmed.ncbi.nlm.nih.gov/9268103
Publikováno v:
American journal of medical genetics. 70(1)
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dff5a48db8c084a9d9bb7a8afc1d2e27
https://pubmed.ncbi.nlm.nih.gov/9129745
https://pubmed.ncbi.nlm.nih.gov/9129745
Publikováno v:
American journal of medical genetics. 66(2)
Two apparently balanced chromosome rearrangements were identified in a 17-week fetus by analysis of cultured amniocytes. The fetal karyotype was 46,XX,t(2;16) (q33;q24), inv(7)(p15q11.23). Parental karyotypes were normal, indicating a de novo origin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97d18f1372287d0aab2c873cc9b60069
https://pubmed.ncbi.nlm.nih.gov/8958330
https://pubmed.ncbi.nlm.nih.gov/8958330
Publikováno v:
Postgraduate Medical Journal. 78:572-572
We read with interest the review article on inflammatory bowel disease (IBD) in pregnancy.1 The author mentions that there has never been any demonstration of teratogenicity of 6-mercaptopurine (or azathioprine) in humans. We would like to report a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec6eff8a9eee9fae0918b9a08caa89c4
https://doi.org/10.1136/pmj.78.923.572-a
https://doi.org/10.1136/pmj.78.923.572-a