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Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field.

作者信息

Warburg M, Friedrich U

机构信息

Clinic for the Multiply Handicapped, Gentofte Hospital, Denmark.

出版信息

Ophthalmic Paediatr Genet. 1987 Jun;8(2):105-18. doi: 10.3109/13816818709028526.

DOI:10.3109/13816818709028526
PMID:3309769
Abstract

A survey of more than 500 reports on patients with autosomal chromosomal aberrations associated with microphthalmos and/or coloboma shows that these anomalies are unspecific. Anterior chamber anomalies were common as were abnormal ears, preauricular pits and tags, cleft lip-palate, micrognathia, urogenital malformations, congenital heart disease, atresia of the anus and minor malformations of the hands and feet. It is proposed that the chromosomal aberrations induce faulty development of neural crest cells and rostral neural plate derivatives.

摘要

相似文献

1
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2
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Abnormal electroretinogram associated with developmental brain anomalies.与发育性脑异常相关的异常视网膜电图。
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Classification of microphthalmos and coloboma.小眼症和脉络膜缺损的分类。
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Optic nerve hypoplasia in association with brain anomalies and an abnormal electroretinogram.视神经发育不全伴脑异常及异常视网膜电图。
Doc Ophthalmol. 1994;86(1):11-22. doi: 10.1007/BF01224624.
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Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.细胞遗传学研究结果表明,患有睑裂狭小、内眦赘皮和发育迟缓的患者存在异质性。
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The genetic contribution to the phenotype.遗传因素对表型的影响。
Hum Genet. 1995 Feb;95(2):127-48. doi: 10.1007/BF00209392.
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Colobomatous malformations of the eye.眼部缺损性畸形
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