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Familial MDS with 5q — abnormality
Author(s) -
Grimwade D. J.,
Stephenson J.,
Silva C.,
Dalton R. G.,
Mufti G. J.
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb03115.x
Subject(s) - abnormality , monosomy , chromosomal abnormality , chromosome abnormality , genetics , cytogenetics , chromosome , medicine , karyotype , biology , gene , psychiatry
Summary. Abnormalities of chromosome 5 and 7 are frequently found in primary MDS. Cases with familial monosomy 7 are well recognized, but there are no reports of familial MDS with deletion of 5q. We describe two sisters, aged 38 and 36 years, both of whom had MDS and interstitial deletion of 5q. The occurrence of this chromosomal abnormality reinforces the concept of tumour suppressor gene hypothesis in some cases with familial MDS.