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首页> 外文期刊>American journal of medical genetics, Part A >WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.
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WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.

机译：由不平衡的t（11; 15）（p13; p11.2）dn引起的WAGR（O2）综合征和先天性上睑下垂表明FISH删除了7兆碱基。

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Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. The aniridia and predisposition for Wilms tumor seen in WAGR are caused by haploinsufficiency for PAX 6 and WT1, respectively. We present a female infant with aniridia, bilateral ptosis, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, microcephaly, mild unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of WAGR syndrome. In addition, weight-for-height ratio at 12 months is at the 94th centile, raising the possibility of a diagnosis of WAGRO (WAGR + Obesity). Chromosome analysis revealed a translocation (11;15)(p13;p11.2) which has not been previously associated with a diagnosis of WAGR. Subsequent clinical WAGR fluorescent in situ hybridization (FISH) analysis demonstrated a deletion of 11p13 including PAX6 and WT1. A complete FISH-mapping of the breakpoints on chromosome 11 revealed a 7 Mb deletion within 11p13-11p14. The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR + obesity (WAGRO) as well as with other reported patients with aniridia and congenital ptosis.
机译：虹膜虹膜通常独立发生，但也可能作为WAGR连续基因缺失综合症的一部分而发生，其中包括Wilms肿瘤，虹膜虹膜，泌尿生殖系统异常和智力低下。在WAGR中看到的Wilms肿瘤的无虹膜和易感性分别由PAX 6和WT1的单倍剂量不足引起。我们介绍了一个患有虹膜虹膜，双侧眼睑下垂，双侧后囊性白内障，眼球震颤，左侧青光眼，小头畸形，轻度单侧肾积水，线性生长不良和严重运动延迟的女婴，与WAGR综合征的临床诊断一致。此外，在12个月时的身高体重比为94分，这增加了诊断WAGRO（WAGR +肥胖）的可能性。染色体分析显示易位（11; 15）（p13; p11.2），以前与WAGR的诊断无关。随后的临床WAGR荧光原位杂交（FISH）分析表明11p13缺失，包括PAX6和WT1。染色体11断点的完整FISH映射显示11p13-11p14中7 Mb缺失。根据其他报告的患者的缺失和/或易位涉及11p12-> 11p14之间的区域对患者进行检查，包括WAGR +肥胖症（WAGRO）的患者以及其他报告的患有虹膜和先天性上睑下垂的患者。

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