伴有镶嵌现象的妖精貌综合征，核型为46,XX/47,XX额外环状染色体。

Ventruto V, Sebastio L, Sebastio G, DeMasi R V, Vota U, Farina L, Festa B

J Med Genet. 1977 Oct;14(5):383-6. doi: 10.1136/jmg.14.5.383.

A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46, XX/47, XX, +r(?). It was not possible to identify the origin of the extra ring chromosome. It is difficult to establish the role of such a cytogenetic finding in the aetiology of the syndrome.

报告了一例伴有染色体异常的拉普-莱伦综合征病例。该患者为一名女婴，其父母是健康的近亲年轻夫妇。她的病程表现为极度消瘦，于3个月大时死亡。她呈现出该综合征的典型特征以及染色体嵌合体46, XX/47, XX, +r(?)。无法确定额外环状染色体的来源。很难确定这种细胞遗传学发现在该综合征病因学中的作用。