DENOVO T(5P-21Q) IN A PATIENT PREVIOUSLY DIAGNOSED AS MONOSOMY-21

被引：17
作者：
LOPEZPAJARES, I
MARTINANCEL, A
CABELLO, P
DELICADO, A
GARCIAALIX, A
ROMAN, CS
机构：
[1] HOSP LA PAZ,SERV NEONATOL,MADRID,SPAIN
[2] HOSP RAMON Y CAJAL,SERV GENET MED,MADRID,SPAIN
来源：
CLINICAL GENETICS | 1993年 / 43卷 / 02期
关键词：
CONGENITAL MALFORMATIONS; INSITU HYBRIDIZATION; MONOSOMY-5P; MONOSOMY-21; TRANSLOCATION (5P-21Q);
D O I：
10.1111/j.1399-0004.1993.tb04457.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In situ hybridization of chromosome 21-specific probes to metaphase chromosomes and reverse banding from the proband showed a de novo translocation between chromosome 5 and chromosome 21.
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页码：94 / 97
页数：4
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