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右上肢体芽重复及多乳头症、左侧半身肥大及先天性髋关节脱位、面部畸形、先天性心脏病和脊柱侧弯：类似紊乱的谱系还是模式形成基因缺陷？

Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

作者信息

Sabry M A, al-Saleh Q, al-Saw'an R, al-Awadi S A, Farag T I

机构信息

Kuwait Medical Genetics Centre, Sulibikhat.

出版信息

J Med Genet. 1995 Jul;32(7):555-6. doi: 10.1136/jmg.32.7.555.

DOI:10.1136/jmg.32.7.555
PMID:7562971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050551/
Abstract

A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

摘要

本文描述了一名患有右上肢重复畸形、多乳头、左侧半侧肥大、先天性髋关节脱位、面部畸形、先天性心脏病和脊柱侧弯的索马里女婴。上述这种异常模式似乎此前尚未见报道。文中简要讨论了导致该表型的可能的发育遗传学机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ffb/1050551/6a6635c781dc/jmedgene00274-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ffb/1050551/09bd6f004808/jmedgene00274-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ffb/1050551/6a6635c781dc/jmedgene00274-0062-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ffb/1050551/09bd6f004808/jmedgene00274-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ffb/1050551/6a6635c781dc/jmedgene00274-0062-a.jpg

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Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?右上肢体芽重复及多乳头症、左侧半身肥大及先天性髋关节脱位、面部畸形、先天性心脏病和脊柱侧弯：类似紊乱的谱系还是模式形成基因缺陷？
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引用本文的文献

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本文引用的文献

1
A CHILD WITH THREE LOWER EXTREMITIES.一个有三条下肢的儿童。
J Bone Joint Surg Am. 1964 Dec;46:1755-8.
2
Developmental anomalies in mice resulting from action of the gene, disorganization, a semi-dominant lethal.由“紊乱”基因（一种半显性致死基因）作用导致的小鼠发育异常。
Pediatrics. 1959 Jan;23(1 Part 2):212-21.
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Man with three legs.三条腿的男人。
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An unusual form of caudal duplication (dipygus).一种不寻常的尾部重复畸形（双臀畸形）。
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Hox genes and pattern formation in the branchial region of the vertebrate head.Hox基因与脊椎动物头部鳃区的模式形成。
Trends Genet. 1993 Apr;9(4):106-12. doi: 10.1016/0168-9525(93)90203-t.
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Mechanisms of limb patterning.肢体模式形成的机制。
Curr Opin Genet Dev. 1994 Aug;4(4):535-42. doi: 10.1016/0959-437x(94)90069-f.
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A possible human homologue for the mouse mutant disorganisation.一种可能与小鼠突变体“无序”相对应的人类同源物。
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