Kousseff B G, Papenhausen P, Essig Y P, Torres M P
Division of Medical Genetics, University of South Florida, Tampa, 33612-4799.
J Med Genet. 1993 Feb;30(2):167-70. doi: 10.1136/jmg.30.2.167.
A Caucasian boy with a de novo complex chromosome rearrangement owing to six chromosome breaks was small for gestation with microcephaly, complex heart defect, hypotonia, left auricular pit, simian creases, and ankyloblepharon filiforme adnatum. The rearrangement included two translocation, t(15;21) (q22;q22) and t(3;11)(q21;q11), with the derivative 3 showing in addition pericentric inversion (p11q11) and interstitial deletion (q11q21). Based on parental satellite polymorphisms of chromosomes 15 and 21, the paternal gamete appeared to be the source of the chromosome rearrangement. There was no evidence of mitotic chromosome instability. A review of 36 reported patients with complex chromosome rearrangements secondary to more than four breaks indicates that complex chromosome rearrangements are compatible with gamete survival, zygote formation, and postnatal life. The latter is usually compromised by structural defects, growth retardation, and often mental retardation.
一名患有因六条染色体断裂导致的新生复杂染色体重排的高加索男孩，出生时小于孕周，伴有小头畸形、复杂心脏缺陷、肌张力减退、左耳窝、猿线和先天性睑缘粘连。该重排包括两次易位，t(15;21) (q22;q22) 和t(3;11)(q21;q11)，衍生的3号染色体还显示有臂间倒位 (p11q11) 和中间缺失 (q11q21)。基于15号和21号染色体的亲本卫星多态性，父方配子似乎是染色体重排的来源。没有有丝分裂染色体不稳定的证据。对36例报告的因四次以上断裂继发复杂染色体重排的患者进行的回顾表明，复杂染色体重排与配子存活、受精卵形成及出生后生活是相容的。后者通常会受到结构缺陷、生长发育迟缓影响，且往往伴有智力发育迟缓。
