Roberts S H, Duckett D P
J Med Genet. 1978 Oct;15(5):375-81. doi: 10.1136/jmg.15.5.375.
An abnormal female infant, who survived for 10 months with almost complete trisomy 16p and monosomy of sub-band 21q22.3, is described. The chromosome anomaly was the result of an unbalanced segregation of a maternal balanced translocation t(16;21)(p11;q22.3). The partial monosomy was considered to have had little or no adverse phenotypic effect. Cases with trisomy of chromosome 16 material are reviewed. It appears that while full trisomy 16 always results in early spontaneous abortion, trisomy 16p or 16q may be compatible with limited postnatal survival.
本文描述了一名异常女婴，她因几乎完全的16号染色体短臂三体和21号染色体长臂22.3亚带单体而存活了10个月。染色体异常是由于母亲的平衡易位t(16;21)(p11;q22.3)发生不平衡分离所致。部分单体被认为对表型的不良影响很小或没有影响。本文对16号染色体物质三体的病例进行了综述。似乎虽然16号染色体完全三体总是导致早期自然流产，但16号染色体短臂或长臂三体可能与有限的出生后存活相容。
