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An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl
Author(s) -
Balíĉek Petr,
Zižka Jan,
Lichý Josef
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.tb01567.x
Subject(s) - isochromosome , girl , mentally retarded , genetics , chromosome , long arm , biology , karyotype , gene , psychology , developmental psychology
A 2.5‐year‐old girl with several congenital anomalies is described. Chromosomal analysis suggests the presence of a small extra metacentric chromosome which was identified as isochromosome 18p by means of R‐banding and C‐banding.