Molecular cytogenetic characterization and origin of two de novo duplication 9p cases

被引：1
作者：
Tsezou, A
Kitsiou, S
Galla, A
Petersen, MB
Karadima, G
Syrrou, M
Sahlèn, S
Blennow, E
机构：
[1] Athens Med Sch, Genet Unit, Dept Pediat, Athens, Greece
[2] Karolinska Hosp, Dept Clin Genet, S-10401 Stockholm, Sweden
[3] Univ Ioannina, Lab Gen Biol, GR-45110 Ioannina, Greece
[4] Inst Child Hlth, Athens, Greece
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 2000年 / 91卷 / 02期
关键词：
CGH; DNA polymorphisms; duplication; 9p; FISH;
D O I：
10.1002/(SICI)1096-8628(20000313)91:2<102::AID-AJMG4>3.0.CO;2-5
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct duplication was defined as 9p12 --> p24 by microdissection and microcloning of the aberrant chromosome and subsequent chromosome-specific comparative genomic hybridization. DNA polymorphism analysis with eight microsatellite markers revealed that the origin of the dup(9p) was maternal; in the first case, whereas it was paternal in the second. (C) 2000 Wiley-Liss, Inc.
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页码：102 / 106
页数：5
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