Bass H N, Sparkes R S, Miller A A
Clin Genet. 1979 Sep;16(3):163-8. doi: 10.1111/j.1399-0004.1979.tb00986.x.
An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
在一名具有18三体综合征和18p-综合征特征的婴儿中发现了18号染色体长臂等臂染色体——46,XY,i(18q)。与18三体综合征相符的表现包括过期产、枕部突出、严重先天性心脏病、手指重叠和摇椅底足。18p-综合征的表现常类似于特纳综合征，包括睑裂向下倾斜、短颈且有蹼、后发际线低和乳头间距宽。该婴儿在3.5月龄时死于心力衰竭。父母的核型正常。
