Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.
作者信息
Gurrieri F, Genuardi M, Chiurazzi P, Gillessen-Kaesbach G, Neri G
出版信息
Am J Hum Genet. 1994 Oct;55(4):853-5.
Abstract
摘要
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Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.人类常染色体显性分裂手/分裂足畸形中基因座异质性的证据。
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Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.一个家族中出现的裂手/裂足畸形，该家族存在一条平衡易位染色体，其断点位于7q22.1。
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Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.X染色体裂手/裂足畸形基因定位于Xq26-q26.1。
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Heterogeneity of the autosomal dominant split hand/split foot malformation.常染色体显性分裂手/分裂足畸形的异质性。
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Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.伴有听力损失的裂手/裂足畸形：与7q21处SHFM1基因座相关的家系首次报告
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A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.第二个常染色体裂手/裂足基因座定位于10号染色体q24 - q25区域。
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Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3.染色体区域8q21.11-q22.3存在裂手/裂足畸形额外位点的证据。
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引用本文的文献
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Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.伴有涉及7q21.3的复杂细胞遗传学重排的裂手/裂足畸形、耳聋和智力障碍。
J Med Genet. 1996 Jun;33(6):507-10. doi: 10.1136/jmg.33.6.507.
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Bilateral split hand/foot malformation and inv(7)(p22q21.3).双侧裂手/裂足畸形与inv(7)(p22q21.3)。
J Med Genet. 1995 May;32(5):375-8. doi: 10.1136/jmg.32.5.375.
本文引用的文献
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EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).一名患有臂间倒位（7）（q22.1；q36.3）的女孩的EC综合征。
Clin Dysmorphol. 1993 Jan;2(1):62-7.
2
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.一个家族中出现的裂手/裂足畸形，该家族存在一条平衡易位染色体，其断点位于7q22.1。
Am J Med Genet. 1993 Nov 1;47(6):823-31. doi: 10.1002/ajmg.1320470606.
3
Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993.1993年第一届人类染色体7图谱绘制国际研讨会报告及摘要
Cytogenet Cell Genet. 1994;65(1-2):52-73.
4
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.7号染色体q21.3 - q22.1区域常染色体显性遗传的裂手/裂足基因座的精细定位。
Am J Hum Genet. 1994 Jul;55(1):12-20.
5
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.人类常染色体显性分裂手/分裂足畸形中基因座异质性的证据。
Am J Hum Genet. 1994 Jul;55(1):21-6.
6
Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
Am J Hum Genet. 1984 Mar;36(2):460-5.
7
Interstitial long-arm deletion of chromosome 7 and ectrodactyly.7号染色体间质性长臂缺失与缺指（趾）畸形
Am J Med Genet. 1989 Feb;32(2):192-4. doi: 10.1002/ajmg.1320320212.
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Ectro-amelia syndrome associated with an interstitial deletion of 7q.与7号染色体长臂间质性缺失相关的无肢畸形综合征。
Am J Med Genet. 1990 Jan;35(1):95-9. doi: 10.1002/ajmg.1320350118.
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Deletion of 7q22 and ectrodactyly.7q22缺失与缺指畸形。
Genet Couns. 1991;2(1):27-31.
10
A second-generation linkage map of the human genome.人类基因组的第二代连锁图谱。
Nature. 1992 Oct 29;359(6398):794-801. doi: 10.1038/359794a0.
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