Small extra ring chromosome derived from chromosome 10p: Clinical report and characterisation by FISH

被引：27
作者：
Blennow, E
Tillberg, E
机构：
[1] KAROLINSKA INST,DEPT MOLEC MED,STOCKHOLM,SWEDEN
[2] KS ST GORAN HOSP,DEPT PEDIAT,STOCKHOLM,SWEDEN
来源：
JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 05期
关键词：
extra ring chromosome; fluorescence in situ hybridisation; chromosome; 10;
D O I：
10.1136/jmg.33.5.399
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We present a case with a small extra ring chromosome which was found in 66% of lymphocytes on routine cytogenetic examination. FISH analyses, using centromere specific and single copy probes, showed that the extra ring chromosome was derived from the most proximal part of 10p, close to the centromere. The patient has a unilateral cleft lip and palate, mild dysmorphic features, and mild mental retardation. Only a limited number of extra ring chromosomes have been characterised so far. To our knowledge, this is the first reported patient with an extra ring chromosome derived from chromosome 10p.
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页码：399 / 402
页数：4
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