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An abnormal large human chromosome identified as an end‐to‐end fusion of two X's by combined results of the new banding techniques and microdensitometry
Author(s) -
Distèche C.,
Hagemeuer A.,
Frederic J.,
Prqgneaux D.
Publication year - 1972
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.1399-0004.1972.tb01472.x
Subject(s) - dicentric chromosome , karyotype , g banding , heterochromatin , biology , chromosome , giemsa stain , genetics , centromere , microbiology and biotechnology , chromosomal translocation , gene
An abnormal large chromosome was described by Gouw et al. (1964) in the karyotype (46 X‐X?) of a patient presenting a Turner‐like syndrome. The structure of this abnormal chromosome, re‐studied with the new banding techniques (Quinacrine mustard fluorescence completed with micro‐densitometric recordings, modified Giemsa and centromeric stainings) appears to be the result of a fusion of two X chromosomes, short arms to short arms. This chromosome is not dicentric but C‐heterochromatin has been demonstrated on its long arms, at the probable centromeric region of the second X involved in the fusion. These findings, their relation to the clinical features and their possible mechanisms of formation, are discussed.