Howard-Peebles P N, Scarbrough P R, Sharpe J, Finley W H, Finley S C
J Med Genet. 1982 Jun;19(3):224-7. doi: 10.1136/jmg.19.3.224.
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.
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。