Silvera Redondo Carlos, Avendaño Capriles Camilo Andrés, Fernández Sánchez David, David Espinosa Ricardo, Acostamadiedo Marx Ana Sofía
Department of Genetics, Hospital Universidad del Norte, Barranquilla, COL.
Foundations of Clinical Research (FCR) Program, Harvard Medical School, Boston, USA.
Cureus. 2021 Nov 17;13(11):e19661. doi: 10.7759/cureus.19661. eCollection 2021 Nov.
Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a characteristic phenotype. We report the case of a patient who presented with distinctive signs and symptoms such as delayed psychomotor development, severe postnatal delay, dolichocephaly, polyotia, and ocular hypertelorism. Even though all cases with a chromosome 19 deletion do not present in the same way, they still share some clinical manifestations that should be considered, which prompted us to present a summary of the available literature on the subject. Additionally, to our knowledge, this is the first and only case with polyotia in its phenotype to be reported in Colombia to date.
19号染色体突变较为罕见，文献报道稀少且临床症状多变。该染色体具有高遗传密度，因此特定的缺失可对身体系统产生独特影响，此外还会导致特征性表型。我们报告了一例患者，其表现出独特的体征和症状，如精神运动发育迟缓、严重的出生后发育延迟、长头畸形、多耳畸形和眼距过宽。尽管所有19号染色体缺失的病例表现不尽相同，但仍有一些应予以考虑的临床表现，这促使我们对该主题的现有文献进行总结。此外，据我们所知，这是迄今为止在哥伦比亚报道的首例也是唯一一例具有多耳畸形表型的病例。
