Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
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DOI：
10.1086/514852
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发表时间：
1997-08-01
影响因子：
9.8
通讯作者：
Schwartz, S
中科院分区：
文献类型：
--
作者：
Conroy, JM;Grebe, TA;Schwartz, S
在15 q11-q13中缺乏正常活性的父本基因，作为父本缺失或母本二体性的结果，占所有Prader-Willi综合征患者的>95%。其他机制，包括涉及pat 15 q11-q13的印记突变和不平衡易位，已在其他地方描述。在这项研究中，我们提出了一个罕见的平衡，从头易位-46，XY，t（2;15）（q37.2; q11.2）-涉及父系同源物的Prader-Willi/Angelman综合征区域内的断裂，没有明显的缺失，该患者表现出Prader-Willi综合征的几种表现，但在临床上不典型，该病例的细胞遗传学和分子研究表明，易位断点位于SNRPN和IPW之间，SNRPN和PAR-5 mRNA表达，但IPW和PAR-1表达缺失。这些结果表明，IPW表达或附近的基因上游断裂中断可能有助于普拉德-威利综合征表型和SNRPN或其他上游基因的表达是负责经典普拉德-威利综合征表型的其他方面。
The lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal deletion or maternal disomy, accounts for >95% of all patients with Prader-Willi syndrome. Other mechanisms, including imprinting mutations and unbalanced translocations involving pat 15q11-q13, have been described elsewhere. In this study, we present a patient with a rare balanced, de novo translocation-46,XY,t(2;15)(q37.2;q11.2)-involving breakage within the Prader-Willi/Angelman syndrome region of the paternal homologue, without an apparent deletion, The patient demonstrated several manifestations of the Prader-Willi syndrome but was clinically atypical, Cytogenetic and molecular studies of this case demonstrated the translocation breakpoint to be between SNRPN and IPW with mRNA expression of SNRPN and PAR-5 but absence of IPW and PAR-1 expression. These results suggest that disruption of either IPW expression or a nearby gene by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of SNRPN or other upstream genes is responsible for other aspects of the classical Prader-Willi syndrome phenotype.