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A case of atypical Down's syndrome with mosaic 46 ,XX/46,XX‐21+t(21q21q)
Author(s) -
Hornstein L.,
Soukup S.
Publication year - 1976
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.1399-0004.1976.tb00016.x
Subject(s) - karyotype , mosaic , girl , medicine , biology , genetics , pediatrics , chromosome , art , gene , visual arts
A girl with clinically atypical Down's syndrome was found to be mosaic 46,XX/46,XX, – 21, + t(21q21q) in skin fibroblast and blood lymphocyte preparations. The importance is stressed of repeated and thorough karyotype analysis to prevent these cases being missed.