目的:单亲性(UPD)是印记障碍的常见原因之一,根据亲本染色体的起源,这可能会对基因表达产生影响。父系UPD14导致了Kagami-Ogata综合征(KOS),具有比母体UPD14更严重的表型,也称为Temple综合征。小的超数标记染色体(SSMC)被定义为可能遗传或来自微核介导的染色体异常的结构染色体异常。UPD和SSMC的关联非常罕见,但不是偶然的,有几种机制可以解释这种现象。
方法:我们报告了首例14号染色体的父系等异体性,该染色体与源自15号染色体的从头SSMC相关,并由KOS揭示。其机制可能是三体性拯救介导的染色体增生。
结论:关于这种情况,关于从头SSMC,如果超声征象令人回味,那么将UPD的研究扩展到其他近端染色体可能很重要。
OBJECTIVE: Uniparental disomy (UPD) is one of the common causes of imprinting disorders, which can have an impact on gene expression according to the origin of the parental chromosome. Paternal UPD14 leads to Kagami-Ogata syndrome (KOS), which has a more severe phenotype than maternal UPD14, also called Temple syndrome. Small supernumerary marker chromosomes (SSMCs) are defined as structural chromosomal abnormalities that may be inherited or come from
micronucleus-mediated chromothripsis. The association of UPD and SSMC is very rare but not fortuitous and several mechanisms can explain this phenomenon.
METHODS: We report the first prenatal
case of paternal isodisomy for chromosome 14 associated with a de novo SSMC originating from chromosome 15 and revealed by KOS. The mechanism could be a chromothripsis mediated by trisomy rescue.
CONCLUSIONS: Regarding this
case, in relation to a de novo SSMC, it could be important to extend the research of UPD to other acrocentric chromosomes if ultrasound signs are evocative.