Zobrazeno 1 - 10 of 15 pro vyhledávání: '"R G Parfitt"'
1
Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7
Autor: L M Columbano-Green, D Stewart, R G Parfitt, C J Chapman, D R Romain, R H Smythe, H Cairney, M I Parslow, M Garry
Publikováno v: Journal of Medical Genetics. 27:109-113
Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19943222fea6cbb8c717ba4a285ad750
https://doi.org/10.1136/jmg.27.2.109
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2
Translocation (2;14) associated with complex rearrangements of the Ig heavy chain in non-Hodgkin lymphoma
Autor: Logan C. Walker, Peter E. Crossen, Mary J. Morrison, R G Parfitt
Publikováno v: Cancer genetics and cytogenetics. 128(2)
Cytogenetic analysis of a patient with non-Hodgkin lymphoma revealed the following karyotype: 49,XXX,t(2;14)(q21;q32),+4,+8,del(13)(q14q21). Southern blot analysis with an Ig region probe showed non-productive rearrangements indicative of a transloca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f307dd3bd35f5653e4971215783d22e
https://pubmed.ncbi.nlm.nih.gov/11463452
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3
Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35)
Autor: D R Romain, L M Columbano-Green, R G Parfitt, N G Mackenzie, Joanne Dixon, R H Smythe, D Moss
A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowle
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54afc3f50cac420232ec2d0b42893ba6
https://europepmc.org/articles/PMC1050032/
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4
Mosaicism with a normal cell line and an autosomal structural rearrangement
Autor: A. J. Watt, R. J. M. Gardner, P. Tumewu, N. Scobie, H. E. Dockery, R. L. Shaw, R. G. Parfitt, P. H. Fitzgerald, D. R. Romain
Publikováno v: Journal of medical genetics. 31(2)
Over three decades, 12 cases of mosaicism for an autosomal rearrangement were recognised in the major cytogenetics laboratories in New Zealand, eight of which were studied between 1990 and 1992. One case inferentially involved the gonad, eight the so
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361e5eb77d2414a9d8aaf4c37d4a6bf0
https://pubmed.ncbi.nlm.nih.gov/8182714
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6
Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter)
Autor: R H Smythe, D R Romain, L M Columbano-Green, H Cairney, J Goldsmith, R G Parfitt
Publikováno v: Journal of Medical Genetics. 27:588-589
An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 2
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7cd2d06b60f00fd30924796ee44c5f
https://doi.org/10.1136/jmg.27.9.588
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7
Familial distal trisomy 8(q24.13----qter)
Autor: D R Romain, C J Chapman, R A Bloxham, H Cairney, L M Columbano-Green, R G Parfitt, R H Smythe
Publikováno v: Journal of Medical Genetics. 26:133-138
Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24d73ad050b052c901c7dc7496fab06b
https://doi.org/10.1136/jmg.26.2.133
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8
Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient
Autor: R G Parfitt, L M Columbano-Green, Allan G. Frazer, Rosalind H. Smythe, C J Chapman, D R Romain
Publikováno v: American Journal of Medical Genetics. 19:507-513
We describe a woman with profound mental retardation and a direct duplication of 16q and fragile site fra(10)(q25). The identification and possible origin of the duplicated 16q is discussed along with the clinical manifestations. To our knowledge thi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcea8f7c38a00c22ef72d272e7c62c17
https://doi.org/10.1002/ajmg.1320190312
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9
Studies on three rare fragile sites
Autor: D R Romain, L. M. Columbano-Green, O. B. Gebbie, R. H. Smythe, C. J. Chapman, R. G. Parfitt
Publikováno v: Human Genetics. 73:164-170
Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802f264f4ed6805fb82279634c24ea68
https://doi.org/10.1007/bf00291608
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10
Partial monosomy 12p13.1----13.3
Autor: J Goldsmith, R G Parfitt, R H Smythe, L M Columbano-Green, C J Chapman, D R Romain
Publikováno v: Journal of Medical Genetics. 24:434-436
We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9755f85198197c524b3fdc7fe80d05d8
https://doi.org/10.1136/jmg.24.7.434
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