一名患有14三体嵌合体和中性粒细胞核异常的活产婴儿。

Dallapiccola B, Ferranti G, Giannotti A, Novelli G, Pasquini L, Porfirio B

J Med Genet. 1984 Dec;21(6):467-70. doi: 10.1136/jmg.21.6.467.

Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism were, in our patient, abnormalities of the neutrophil nuclei, which consisted of multiple pedunculated or sessile projections, similar to those characteristically associated with trisomy 13 syndrome.

一名患有严重发育迟缓及先天性畸形的患者被诊断为14号染色体嵌合三体。结合此前的一些报告，该病例提示存在一种与这种染色体失衡相关的综合征。在我们的患者中，14号染色体嵌合三体出现了此前未被认识到的表现，即中性粒细胞核异常，表现为多个带蒂或无蒂的突起，类似于13号染色体三体综合征的典型特征。