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一种复杂的染色体重排,导致15号染色体长臂2区2带至末端三体性。

A complex chromosome rearrangement resulting in trisomy 15q22 to qter.

作者信息

Howard-Peebles P N, Scarbrough P R, Sharpe J, Finley W H, Finley S C

出版信息

J Med Genet. 1982 Jun;19(3):224-7. doi: 10.1136/jmg.19.3.224.

Abstract

A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation in growth and development, microcephaly, asymmetrical facies, prominent occiput, antimongoloid slant of the palpebral fissures, micrognathia, prominent nose, and congenital heart disease.

摘要

一名患有畸形的黑人婴儿被发现存在15号染色体长臂22区至末端三体。母亲有涉及三条染色体(5号、13号和15号)的复杂染色体重排。与先前发表的15号染色体长臂远端三体病例进行比较,发现其临床特征模式包括生长发育迟缓、小头畸形、面部不对称、枕部突出、睑裂反蒙古样倾斜、小颌畸形、鼻子突出以及先天性心脏病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/8cac35010b66/jmedgene00113-0067-a.jpg

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