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Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis
Author(s) -
Hodgson S. V.,
Berry A. C.,
Dunbar Helen M.
Publication year - 1995
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.1399-0004.1995.tb04120.x
Subject(s) - pyloric stenosis , chromosomal translocation , karyotype , stenosis , medicine , anatomy , genetics , biology , chromosome , gene
Two half‐brothers are described who had developmental delay and minor dysmorphic features, both of whom had operative treatment for pyloric stenosis. They had identical unbalanced karyotypes: 46,XY,‐17,+der(17)t(8;17) (q24;q25). This was inherited from their mother who had the balanced form of the translocation. She was of normal intelligence and had no history of pyloric stenosis herself or in her extended family. It is suggested that the unbalanced chromosomal rearrangement could have been associated with the development of pyloric stenosis in these two brothers.