De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21

被引：0
作者：
Riegel, M
Baumer, A
Piram, A
Ortolan, D
Peres, LC
Pina-Neto, JM
机构：
[1] Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland
[2] Clin Hosp Porto Alegre, Serv Med Genet, Porto Alegre, RS, Brazil
[3] FMRP, Dept Genet, Sao Paulo, Brazil
[4] FMRP, Dept Pathol, Sao Paulo, Brazil
来源：
GENETIC COUNSELING | 2001年 / 12卷 / 01期
关键词：
monosomy; 21; unbalanced translocation; chromosome painting;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
We describe a patient in whom full monosomy 21 was initial ly assumed from routine GTG banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 11 and 21. Fluorescence in situ hybridization (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q22.2) and 11 (q24-qter). The patient was prematurely born in the 31(st) week of gestation and expired 3 days after delivery. She showed multiple minor anomalies, a complex cardio-vascular malformation, intestinal malrotation and cerebellar hypoplasia.
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页码：69 / 75
页数：7
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