Prieto F, Badia L, Moreno J A, Barbero P, Asensi F
Hum Genet. 1978 Dec 18;45(2):229-35. doi: 10.1007/BF00286969.
A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.
在一名患有智力迟钝和其他轻微畸形的7岁男孩中,发现了一种具有2号、4号、9号、10号、12号和13号染色体6种新发常染色体异常的核型。G带和C带技术显示2号和4号常染色体之间以及9号和13号常染色体之间存在平衡易位。一条10号染色体短臂丢失了遗传物质,可能是由于中间缺失。一个不明染色体片段插入到12号常染色体长臂中。G带显示插入12号常染色体的遗传物质并非来自10号常染色体缺失的遗传物质。先证者表现出与报道的10p-综合征病例相似的临床特征。然而,尚无法确定插入12号常染色体的遗传物质对先证者表型的影响。