ISSN:
1432-1076
Schlagwort(e):
Chromosome 21
;
Chromosome 17
;
Chromosome 20
;
G deletion syndrome I
;
Gene mapping
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract Three patients with partial monosomy of the long arm of chromosome 21 are reported. Each one presents several features of a 21q—syndrome but in cases 2 and 3, other chromosomes are involved, contributing to the variability of the clinical picture. Synthesis of clinical, enzymatic and cytogenetic findings confirms that the superoxide dismutase A (SOD-A) locus is in sub-band 21q22-1. However, it is not possible to localize precisely the segments responsible for the different clinical features of 21q — syndrome.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00442594
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