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Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, +i(8p)/46,XY
Author(s) -
Kristoffersson Ulf,
Lagergren Jan,
Heim Sverre,
Mandahl Nils
Publication year - 1988
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.1399-0004.1988.tb02863.x
Subject(s) - karyotype , abnormality , mosaic , biology , anatomy , mentally retarded , rib cage , psychomotor learning , chromosomal abnormality , genetics , chromosome , medicine , psychology , neuroscience , developmental psychology , cognition , history , archaeology , psychiatry , gene
A 5‐year‐old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic karyotype 47,XY, +i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported before.