title: Myelodysplastic syndrome in a kindred with ins(16) (p11.2).
abstract: A constitutional karyotypic abnormality, ins(16)(p11.2), is described in a case of myelodysplastic syndrome (MDS). The source of material for this insertion could not be established, but did not arise from either a balanced deletion or translocation, and did not consist of constitutive heterochromatin as defined by C-banding. The same lesion was found in both sisters, both nephews and four of the five great-nephews. Of these, all were phenotypically and haematologically normal, with the exception of a great-nephew who at the age at the age of 6 exhibits features compatible with partial trisomy 16p. The relationship of the karyotypic abnormality to the MDS and partial trisomy 16p in this family is discussed.
authors.affiliation: Department of Haematology, University of Wales College of Medicine, Cardiff, U.K.
authors.forename: R E
authors.initials: RE
authors.lastname: Clark
authors.forename: D
authors.initials: D
authors.lastname: Geddes
authors.forename: K
authors.initials: K
authors.lastname: Whittaker
authors.forename: A
authors.initials: A
authors.lastname: Jacobs
mesh_terms: D001772:Blood Cell Count; D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics*; D010375:Pedigree