Berry S M, Gosden C, Snijders R J, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London, UK.
Fetal Diagn Ther. 1990;5(2):92-9. doi: 10.1159/000263552.
In 38 fetuses with holoprosencephaly, cordocentesis and blood karyotyping was performed. The karyotype was normal in all 12 cases with isolated holoprosencephaly, and in all 5 with holoprosencephaly and facial defects only. In contrast, 11 of the 21 (52%) fetuses with extrafacial malformations were chromosomally abnormal [47xx+13, n = 6; 47xy+13, n = 2; 47xx+18, n = 1; 46xx-18+i(18q), n = 1; 46xy 21q-, n = 1]. In the chromosomally normal group, there was parental consanguinity in 2 cases and recurrence of holoprosencephaly in 3.
对38例患全前脑畸形的胎儿进行了脐带穿刺术和血液核型分析。在所有12例单纯性全前脑畸形病例以及所有5例仅伴有全前脑畸形和面部缺陷的病例中，核型均正常。相比之下，21例伴有面部外畸形的胎儿中有11例（52%）染色体异常[47,XX,+13，n = 6；47,XY,+13，n = 2；47,XX,+18，n = 1；46,XX,del(18)(q12q22)+i(18)(q10)，n = 1；46,XY,del(21)(q22)，n = 1]。在染色体正常组中，有2例存在父母近亲结婚情况，3例出现全前脑畸形复发。
