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Myelodysplastic syndrome in a kindred with ins(16) (p11.2)
Author(s) -
Clark R. E.,
Geddes D.,
Whittaker K.,
Jacobs A.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb03474.x
Subject(s) - nephew and niece , chromosomal translocation , partial trisomy , trisomy , abnormality , biology , chromosomal abnormality , karyotype , genetics , chromosome abnormality , hum , chromosome , medicine , philosophy , linguistics , psychiatry , gene , art , performance art , art history
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 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.