Zobrazeno 1 - 5
of 5
pro vyhledávání: '"D V, Zaletajev"'
Publikováno v:
American journal of medical genetics. 35(2)
At least nine cases of holoprosencephaly (HPE) found in patients with confirmed loss of 7q34----7qter or 7q36----7qter have been reported in the literature. In the present report, balanced rearrangements involving chromosome 7q [inv(7)(p22.1q34) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c734a0bb419ca355b260129ff2551840
https://pubmed.ncbi.nlm.nih.gov/2309771
https://pubmed.ncbi.nlm.nih.gov/2309771
Autor:
D. V. Zaletajev, G. S. Marincheva
Publikováno v:
Human genetics. 63(2)
A patient with typical features of the Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II) is described. In the karyotype an interstitial deletion of the long arm of chromosome 8 (band 8q22) was observed as the result of a complex rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0075cd77dd8d395837889c6272cc4ed
https://pubmed.ncbi.nlm.nih.gov/6840761
https://pubmed.ncbi.nlm.nih.gov/6840761
Publikováno v:
Helvetica paediatrica acta. 41(6)
A new case is presented of partial trisomy 3p in a one-year-old mentally retarded female infant with characteristic craniofacial dysmorphism and rare-faction of the stroma of the iris. The partial trisomy resulted from paternal balanced translocation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5dca083be8a7871ead8136ef39e7793f
https://pubmed.ncbi.nlm.nih.gov/3583774
https://pubmed.ncbi.nlm.nih.gov/3583774
Publikováno v:
Journal de genetique humaine. 33(1)
Partial trisomy for the distal part of the short arm of chromosome 20 reported in a girl aged 11/2 years with typical craniofacial dysmorphies and psychomotor retardation. The trisomy resulted from a paternal translocation t(14;20) (q32.3;p11.1). The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7676ccc5d98213c2a7522e7c3d57893d
https://pubmed.ncbi.nlm.nih.gov/3981145
https://pubmed.ncbi.nlm.nih.gov/3981145