一名患有先天性畸形儿童中1号染色体长臂的末端缺失并伴有稳定的无着丝粒片段。

Kucerová M, Polívková Z, Dluholucký S, Kvasnicová M

Am J Hum Genet. 1983 Jan;35(1):91-5.

The terminal deletion with stable acentric fragment of 1q was found in a girl with multiple congenital malformations and severe mental retardation. The karyotype of both parents was normal, and the aberration appears de novo. The medium did not influence the expression of the aberration.

在一名患有多种先天性畸形和严重智力发育迟缓的女孩中发现了1号染色体长臂末端缺失并伴有稳定的无着丝粒片段。其父母的核型正常，该畸变似乎是新发的。培养基并未影响该畸变的表达。