Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq).
Clin Genet, 1975/4;7(4):299-303.
PMID: 47795
Impact factor: 4.296
Abstract
A girl is presented with "isochromosome" X mosaicism, 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq). The "isochromosome" had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.
MeSH terms
Child; Chromosome Aberrations; Chromosomes, Human, 6-12 and X; Female; Heterochromatin; Humans; Karyotyping; Sex Chromosomes; Staining and Labeling; Turner Syndrome
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