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DOWN'S SYNDROME WITH TRANSLOCATION‐EN‐TANDEM: A REPORT OF TWO UNRELATED CASES
Author(s) -
GARSON O. MARGARET,
BAIKIE A. G.,
PITT D. B.,
NEWMAN N. M.
Publication year - 1970
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1970.tb02860.x
Subject(s) - chromosomal translocation , centromere , medicine , genetics , chromosomal inversion , down syndrome , chromosome , karyotype , biology , gene
SYNOPSIS Two cases of Down's syndrome due to the uncommon translocation‐en‐tandem of two G group chromosomes are described. Investigation of these patients and a review of 6 others in the literature suggest that their level of intelligence is higher than that of trisomic mongols. Cytogenetic studies indicate that in our patients the abnormal chromosome was produced by a translocation involving the long arms of two G group chromosomes, rather than the usual form of translocation involving the centromere followed by later pericentric inversion.