Mild phenotype in two unrelated patients with a partial deletion of 21q22.2q22.3 defined by FISH and molecular studies
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2q22.3 defined by FISH and molecular studies
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DOI：
10.1002/ajmg.a.30361
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发表时间：
2004-12-15
影响因子：
2
通讯作者：
Wirth, J
中科院分区：
文献类型：
--
作者：
Ehling, D;Kennerknecht, I;Wirth, J
We describe two unrelated patients with cytogenetically visible deletions of 21q22.2-q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward-slanting palpebral fissures, depressed nasal bridge, small nose with bulbous tip, and mild mental retardation (MR). FISH and molecular studies indicated common deleted areas but different breakpoints. In patient 1, the breakpoint vas fine mapped to a 5.2 kb interval between exon 5 and exon 8 of the ETS2 gene. The subtelomeric FISH probe was absent on one homologue 21 indicating a terminal deletion spanning similar to7.9 Mb in size. In patient 2, the proximal breakpoint was determined to be 300-700 kb distal to ETS2, and the distal breakpoint 2.5-0.3 Mb from the 21q telomere, indicating an interstitial deletion sized similar to4.7-7.3 Mb. The 21q. syndrome is rare and typically associated with a severe phenotype, bat different outcomes depending on the size and location of the deleted area have been reported. Our data show that monosomy 21q of the area distal to the ETS2 gene, representing the terminal 7.9 Mb of 21% may result in mild phenotypes comprising facial anomalies, thin marfanoid build, and mild MR, with or without signs of holoprosencephaly. (C) 2004 Wiley-Liss, Inc.
