Wannenmacher Bardo, Mitter Diana, Kießling Franziska, Liehr Thomas, Weise Anja, Siekmeyer Manuela, Kiess Wieland
J Pediatr Endocrinol Metab. 2016 May 1;29(5):611-6. doi: 10.1515/jpem-2015-0375.
We report on a 33-year-old patient with mosaic interstitial duplication on chromosome 14q11.2-14q22.1~22.3 with severe physical and mental retardation and multiple dysmorphisms. This patient was admitted to our pediatric hospital due to severe dehydration and malnutrition as a result of food refusal. It is an actual phenomenon that patients with severe inborn clinical problems nowadays survive due to progress and care of modern medicine. Nevertheless, transition from pediatric care to adult medicine seems to remain a challenging problem. We demonstrate the clinical course as well as clinical and genetic findings of this adult patient. Comparisons are made to previously reported cases with mosaic trisomy 14 involving a proximal interstitial duplication on the long arm of chromosome 14.
我们报告了一名33岁的患者，其14号染色体q11.2 - 14q22.1~22.3区域存在嵌合性间质重复，伴有严重的智力和身体发育迟缓以及多种畸形。该患者因拒食导致严重脱水和营养不良而入住我院儿科。如今，由于现代医学的进步和护理，患有严重先天性临床问题的患者得以存活，这是一个实际存在的现象。然而，从儿科护理向成人医学的过渡似乎仍然是一个具有挑战性的问题。我们展示了这名成年患者的临床病程以及临床和基因检查结果。并与先前报道的涉及14号染色体长臂近端间质重复的14号染色体嵌合三体病例进行了比较。
