SEALS Genetics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Randwick (Sydney), NSW 2031, Australia.
Transl Pediatr. 2014 Apr;3(2):98-107. doi: 10.3978/j.issn.2224-4336.2014.03.03.
Robertsonian translocations (ROBs) are whole arm rearrangements involving the acrocentric chromosomes 13-15 and 21-22 and carriers are at increased risk for aneuploidy and thus uniparental disomy (UPD). Chromosomes 14 and 15 are imprinted with expression of genes dependent on the parental origin of the chromosome. Correction of a trisomic or monosomic conceptus for chromosomes 14 or 15 would lead to one of the established UPD 14mat/pat or UPD 15 (Prader-Willi/Angelman) syndromes (PWS/AS). In view of this, prenatal UPD testing should be considered for balanced carriers of a ROB, fetuses with a familial or de novo balanced ROB that contains chromosome 14 or 15 or with a normal karyotype when a parent is a carrier of a balanced ROB with a 14 or 15. Individuals with congenital anomalies and an abnormal phenotype and carry a ROB involving the two imprinted chromosomes should also be UPD tested.
罗伯逊易位（ROB）是涉及近端着丝粒染色体 13-15 和 21-22 的整条臂的重排，携带者具有非整倍体和单亲二体性（UPD）的风险增加。染色体 14 和 15 是印记的，其基因的表达依赖于染色体的亲本来源。对于染色体 14 或 15 的三体或单体胚胎的校正，将导致已建立的 UPD 14mat/pat 或 UPD 15（Prader-Willi/Angelman）综合征（PWS/AS）之一。鉴于此，对于 ROB 的平衡携带者、包含染色体 14 或 15 的家族性或新发平衡 ROB 的胎儿，或当父母为携带 14 或 15 的平衡 ROB 时，应考虑进行产前 UPD 检测。患有先天性异常和异常表型并携带涉及两个印记染色体的 ROB 的个体也应进行 UPD 检测。
