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Chromosomal Translocation in a Mentally Deficient Child with Cryptorchidism
Author(s) -
BÜHLER E. M.,
ROSSIER R.,
BODIS I.,
VULLIET V.,
BÜHLER U. K.,
STALDER And G.
Publication year - 1963
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1963.tb03762.x
Subject(s) - chromosomal translocation , autosome , karyotype , chromosome , centromere , genetics , x chromosome , biology , medicine , gene
SUMMARY The cytological observations of a 6‐year‐old boy with mental and physical retardation, obesity and cryptorchidism are reported. Chromosome studies revealed a chromosome number of 45 and a consistent karyotype pattern with only four large acrocentric chromosomes of group 13–15 and an additional metacentric chromosome, interpreted as the result of a translocation of the two missing chromosomes of group 13–15. As far as our knowledge goes, this is the second case of a mere translocation of two autosomes associated with a severe developmental anomaly.