Kale Trupti, Patil Rachit, Pandit Ramesh
Department of Pediatrics, Saint Anthony Hospital, Chicago, IL, USA.
Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA.
Case Rep Genet. 2017;2017:4364216. doi: 10.1155/2017/4364216. Epub 2017 Feb 1.
Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population.
20号染色体短臂的间质性缺失并不常见，因此临床表型定义不明确。迄今为止，文献中报道的病例极少。在本报告中，我们描述了一名4个月大的女性，其20p11.21p12.1存在杂合性缺失，伴有全垂体功能减退以及心脏、胃肠道和泌尿生殖系统异常，同时还有面部畸形特征。我们比较并讨论了20p11区域存在重叠缺失的类似病例。我们希望报告这一罕见病例，因为这可能会更好地明确该患者群体中具有某些畸形特征、多器官受累及相关临床特征的20p间质性缺失的表型。
