PARTIAL TRISOMY OF THE SHORT ARM OF CHROMOSOME-18 DUE TO INVERSION DUPLICATION AND DIRECT DUPLICATION

被引：1
|
作者：
MOOG, U
ENGELEN, JJM
DEDIESMULDERS, CEM
ALBRECHTS, JCM
LONEUS, WH
HAAGEN, AAM
RAVEN, EJM
HAMERS, AJH
机构：
[1] UNIV LIMBURG,DEPT MOLEC CELL BIOL & GENET,6200 MD MAASTRICHT,NETHERLANDS
[2] ST MAARTENS HOSP,DEPT PEDIAT,VENLO,NETHERLANDS
[3] MAASLAND HOSP,DEPT PEDIAT,SITTARD,NETHERLANDS
来源：
CLINICAL GENETICS | 1994年 / 46卷 / 06期
关键词：
CHROMOSOME; 18; HIGH RESOLUTION BANDING; IN SITU HYBRIDIZATION; INVERSION DUPLICATION; MENIAL RETARDATION; MOSAICISM; PHENOTYPE/KARYOTYPE CORRELATION;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstrated by high resolution banding. They were verified by in situ hybridization with a paint specific for chromosome 18 and with DNA probe LI.84 specific for the centromere region of chromosome 18. FISH with the genomic DNA probe pHRR68 specific for 18p11.32 revealed a subtle deletion concomitantly involved in the case of inversion duplication 18p. The patients exhibit slight developmental delay/moderate mental retardation and only a few dysmorphic features. The literature on trisomy 18p is reviewed and the present cases are compared to it.
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收藏
页码：423 / 429
页数：7
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