Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022132566> ?p ?o ?g. }
Showing items 1 to 56 of
56
with 100 items per page.
- W2022132566 endingPage "813" @default.
- W2022132566 startingPage "813" @default.
- W2022132566 abstract "In this study, a four-generation Chinese family in Nanyang, Henan Province was identified with partial trisomy 9p syndrome. Of the 23 family members studied, six were characterized with mental retardation and mild facial and little finger anomalies. All affected family members demonstrated significant intrafamilial homogeneous phenotype except concomitance epilepsy in proband. On the basis of G-banding, the proband showed a translocation between chromosomes of 9p and 21q and partial 9p trisomy. The karyotype was 46, XY, der (21) t (9; 21) (9p22.2; 21q22.3) pat. Further karyotyping of other affected members and their patients in this family revealed translocation of chromosomes of 9p and 21q, with partial 9p trisomy in all affected members. The partial 9p trisomy was the direct result of abnormal segregation of a balanced translocation cell between chromosome 9 and 21 in one of the parents. The extra distal half of the short arm of chromosome, 9pter-->9p21, is responsible for the major clinical features such as mental retardation and mild facial anomaly. The cause of epilepsy in proband was discussed." @default.
- W2022132566 created "2016-06-24" @default.
- W2022132566 creator A5067760045 @default.
- W2022132566 date "2007-01-01" @default.
- W2022132566 modified "2023-09-25" @default.
- W2022132566 title "Cytogenetic analysis of partial trisomy 9p resulting from a reciprocal balanced 9/21 translocation" @default.
- W2022132566 doi "https://doi.org/10.1360/yc-007-0813" @default.
- W2022132566 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17646146" @default.
- W2022132566 hasPublicationYear "2007" @default.
- W2022132566 type Work @default.
- W2022132566 sameAs 2022132566 @default.
- W2022132566 citedByCount "2" @default.
- W2022132566 crossrefType "journal-article" @default.
- W2022132566 hasAuthorship W2022132566A5067760045 @default.
- W2022132566 hasConcept C104317684 @default.
- W2022132566 hasConcept C138626823 @default.
- W2022132566 hasConcept C188997412 @default.
- W2022132566 hasConcept C2776229224 @default.
- W2022132566 hasConcept C2909295384 @default.
- W2022132566 hasConcept C30481170 @default.
- W2022132566 hasConcept C501734568 @default.
- W2022132566 hasConcept C53226629 @default.
- W2022132566 hasConcept C54355233 @default.
- W2022132566 hasConcept C86803240 @default.
- W2022132566 hasConceptScore W2022132566C104317684 @default.
- W2022132566 hasConceptScore W2022132566C138626823 @default.
- W2022132566 hasConceptScore W2022132566C188997412 @default.
- W2022132566 hasConceptScore W2022132566C2776229224 @default.
- W2022132566 hasConceptScore W2022132566C2909295384 @default.
- W2022132566 hasConceptScore W2022132566C30481170 @default.
- W2022132566 hasConceptScore W2022132566C501734568 @default.
- W2022132566 hasConceptScore W2022132566C53226629 @default.
- W2022132566 hasConceptScore W2022132566C54355233 @default.
- W2022132566 hasConceptScore W2022132566C86803240 @default.
- W2022132566 hasIssue "07" @default.
- W2022132566 hasLocation W20221325661 @default.
- W2022132566 hasLocation W20221325662 @default.
- W2022132566 hasOpenAccess W2022132566 @default.
- W2022132566 hasPrimaryLocation W20221325661 @default.
- W2022132566 hasRelatedWork W120510792 @default.
- W2022132566 hasRelatedWork W1984101399 @default.
- W2022132566 hasRelatedWork W1985403785 @default.
- W2022132566 hasRelatedWork W1996147977 @default.
- W2022132566 hasRelatedWork W2064495395 @default.
- W2022132566 hasRelatedWork W2079255048 @default.
- W2022132566 hasRelatedWork W2094728578 @default.
- W2022132566 hasRelatedWork W2419138255 @default.
- W2022132566 hasRelatedWork W2426003490 @default.
- W2022132566 hasRelatedWork W2993794331 @default.
- W2022132566 hasVolume "29" @default.
- W2022132566 isParatext "false" @default.
- W2022132566 isRetracted "false" @default.
- W2022132566 magId "2022132566" @default.
- W2022132566 workType "article" @default.