Duplication/deletion of chromosome 8p.
作者信息
Priest J H
出版信息
Am J Med Genet. 1995 Sep 11;58(3):237. doi: 10.1002/ajmg.1320580308.
PMID:8533824
Abstract
摘要
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1
Duplication/deletion of chromosome 8p.8号染色体短臂重复/缺失
Am J Med Genet. 1995 Sep 11;58(3):237. doi: 10.1002/ajmg.1320580308.
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Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.7例8号染色体短臂倒位重复且通过荧光原位杂交显示存在端粒缺失的临床和细胞遗传学研究结果
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Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.产前诊断发现的涉及8号染色体结构异常的胎儿-胎盘差异。
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Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.一名畸形女婴中的8号染色体短臂缺失/倒位重复嵌合体：一种由8号染色体短臂OR基因减数分裂错误和独立的末端缺失事件形成的嵌合体。
J Med Genet. 2003 Aug;40(8):e93. doi: 10.1136/jmg.40.8.e93.
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Mosaic isochromosome 8p.镶嵌型8号染色体短臂等臂染色体
Am J Med Genet. 1993 Jun 15;46(5):517-9. doi: 10.1002/ajmg.1320460511.
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Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.荧光原位杂交排除了一名史密斯-马吉尼斯综合征患者中17号染色体（p11.2）缺失的明显镶嵌现象。
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Mosaic tetrasomy 8p.8p 染色体镶嵌性三体性
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Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.导致史密斯-马吉尼斯综合征的17号染色体（p11.2p11.2）缺失嵌合体。
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