伴有典型畸形综合征的间质性16号染色体缺失 - Suppr

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Interstitial 16q deletion with typical dysmorphic syndrome.

作者信息

Fryns J P, Proesmans W, Van Hoey G, Van den Berghe H

出版信息

Ann Genet. 1981;24(2):124-5.

PMID:6977293

Abstract

摘要

相似文献

Interstitial 16q deletion with typical dysmorphic syndrome.伴有典型畸形综合征的间质性16号染色体缺失

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Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].与18号染色体长臂缺失相关的综合征[del(18q)]

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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.（17）（p11.2p11.2）间质性缺失：另外6例新的染色体缺失综合征患者的报告

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Interstitial del(13q) associated with blindness and mental retardation.与失明和智力迟钝相关的间质性13号染色体长臂缺失

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Langer-Giedion syndrome with interstitial 8q-deletion.伴有8号染色体长臂间质性缺失的朗格-吉迪恩综合征。

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Brief clinical report: the dup(17p) syndrome.

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Moderate mental retardation and mild dysmorphic syndrome in proximal 7q interstitial deletion.

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7p deletion syndrome: an adult with mild manifestations.7号染色体短臂缺失综合征：一名表现轻微的成年人。

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Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.4号染色体长臂远端间质缺失，del(4)(q33-q35)，伴父源性平衡易位。

Singapore Med J. 2008 Nov;49(11):e336-9.

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Identification and characterization of novel variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.鉴定和表征新型变体：调节 TPP1 蛋白水平可以抵消种系失活变体对端粒长度的影响。

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Interstitial deletion for a region in the long arm of chromosome 16.16号染色体长臂某区域的间质缺失。

Hum Genet. 1983;65(2):134-8. doi: 10.1007/BF00286649.

Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.患有16号染色体长臂缺失综合征的同卵双胞胎：证明16q12.2-q13是关键带区的证据。

Hum Genet. 1984;67(2):233-6. doi: 10.1007/BF00273010.

Interstitial deletion and ring chromosome derived from 16q.源自16q的间质性缺失和环状染色体。

J Med Genet. 1987 May;24(5):308-12. doi: 10.1136/jmg.24.5.308.

Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.通过流式核型分析确诊一名畸形儿童疑似16号染色体长臂缺失。

J Med Genet. 1987 Feb;24(2):88-92. doi: 10.1136/jmg.24.2.88.

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