In:
American Journal of Medical Genetics, Wiley, Vol. 43, No. 4 ( 1992-07), p. 753-758
Abstract:
A 15‐year‐old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf‐Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus. © 1992 Wiley‐Liss, Inc.
Type of Medium:
Online Resource
ISSN:
0148-7299
,
1096-8628
DOI:
10.1002/ajmg.1320430421
Language:
English
Publisher:
Wiley
Publication Date:
1992
detail.hit.zdb_id:
2143866-3
detail.hit.zdb_id:
2143867-5
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2205916-7
SSG:
12
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