Zobrazeno 1 - 10
of 10
pro vyhledávání: '"J C K, Barber"'
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology. 117:885-888
Karyotyping couples that have had recurrent miscarriages detects balanced rearrangements in carrier parents who can be offered prenatal cytogenetic analysis to prevent the birth of a subsequent child with an unbalanced rearrangement. In four UK centr
Autor:
C L, Mercer, C E, Browne, J C K, Barber, V K, Maloney, S, Huang, N S, Thomas, N, Foulds, N, MacLachlan
Publikováno v:
Cytogenetic and Genome Research. 124:179-186
We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12.3 to 2q13, with inversion of t
Publikováno v:
BJOG : an international journal of obstetrics and gynaecology. 117(7)
Karyotyping couples that have had recurrent miscarriages detects balanced rearrangements in carrier parents who can be offered prenatal cytogenetic analysis to prevent the birth of a subsequent child with an unbalanced rearrangement. In four UK centr
The 22q11 deletion syndrome has been described by the acronym “CATCH 22” (Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions).1 Previous studies have indicated that other features s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7639b0120d3cb46f240a88ab3d0c042
https://europepmc.org/articles/PMC1735094/
https://europepmc.org/articles/PMC1735094/
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology. 118:375-376
Autor:
J. C K Barber
Publikováno v:
Journal of Medical Genetics. 32:75-76
We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58431c4b7cdd6b517612abf4fb264ea9
https://europepmc.org/articles/PMC1015744/
https://europepmc.org/articles/PMC1015744/
Publikováno v:
Prenatal diagnosis. 5(2)
Amniotic fluid cultures from two patients showed trisomy-20 mosaicism. No trisomy-20 cells were found in a normal full term infant and in multiple tissue biopsies and fetal blood from a fetus after a termination of pregnancy. No definitive advice is