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颅缝早闭与并指(趾)畸形:扩展11q-染色体缺失表型

Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.

作者信息

Lippe B M, Sparkes R S, Fass B, Neidengard L

出版信息

J Med Genet. 1980 Dec;17(6):480-3. doi: 10.1136/jmg.17.6.480.

Abstract

A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classified as having a non-chromosomal syndrome.

摘要

一名11号染色体长臂部分缺失(q23至qter)的患者出现了颅缝早闭和并指畸形。这些特征此前在11q-综合征中未见报道,它们扩展了该综合征的表型,并强调了在多种先天性异常综合征中即使患者可能被归类为非染色体综合征,仍需使用显带技术进行染色体分析的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a855/1885929/d5dc9b1d5829/jmedgene00128-0073-a.jpg

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