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首页> 外文期刊>Case Reports in Genetics >Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts
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Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

机译：扩大BP1-BP2 15q11.2微缺失表型：气管食管瘘和先天性白内障

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The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C) and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.
机译：15号染色体的近端q臂包含断点区域BP1-BP5，其中经典的BP1-BP3缺失是众所周知的与Prader-Willi和Angelman综合征有关。该区域约为500 kb，据报道患有发育迟缓，行为异常和运动性失用症以及畸形特征（包括过度痉挛，left裂或窄narrow，耳朵异常和上呼吸道反复感染）的患者存在BP1-BP2区域的微缺失。 。我们报告了两名患者，他们从未报告过独特的15q11.2 BP1-2微缺失综合征，其中一例患有近端食管闭锁和远端气管食管瘘（C型），另一例患有先天性白内障。白内障已在Prader-Willi综合征中得到描述，但在Angelman综合征中我们找不到白内障的任何描述。食管闭锁和气管食管瘘尚无报道。这两种情况都有可能是零星的先天性缺陷。然而，伴随微缺失的发现不能被忽略为可能的原因。根据我们对文献的回顾和对患者的介绍，我们建议将食管闭锁和远端气管食管瘘以及先天性白内障纳入15q11.2 BP1-2微缺失综合征的表型范围。

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