Pavlovsky Arthur, Marshall Camryn R, Braud Savannah, Kim Everett J, Jacomino Mario
Medicine, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA.
Women's and Children's Health, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA.
Cureus. 2024 Jul 19;16(7):e64911. doi: 10.7759/cureus.64911. eCollection 2024 Jul.
Chromosomal 1p duplications are a rarity, with minimal literature on the topic. As a result, it is useful to document patient presentations with this defect to help guide the management and treatment of future patients with this genetic abnormality. We present a successful case report of a patient with a chromosome 1p31.3p31.1 duplication, including her initial presentation, the path to genetic testing, and patient outcome. Chromosomal duplication was found on genetic testing performed for failure to thrive and inability to meet her developmental milestones. The patient was significantly undernourished due to her feeding difficulties, leading to her presentation of altered mental status, growth arrest, dehydration, and hypoglycemia. Intervention in the form of a gastrostomy tube and fundoplication led to a significant improvement in the stability seen in the patient at the time of discharge. Long-term cognitive-linguistic treatment is required for continued neurological development. Only 11 publications currently exist regarding chromosome 1p duplication. However, none are specific to the 1p31.3p31.1 duplication, making this case report the first of its kind. Overlapping chromosomal 1p duplications have been described in patients with low birth weight and growth delays, palate abnormalities, intellectual disability, microcephaly, heart defects, and ambiguous genitalia. Despite the rarity of this duplication, it is essential to document these cases because if some of these genetic abnormalities are identified in more significant numbers, they can be conclusively linked to the patient's phenotype. In addition, the treatment plan played an instrumental role in stabilizing our patient's condition. It is also helpful to report the treatment plans so future clinicians who encounter this situation can utilize the successful treatment plans that most align with their patient's clinical presentation.
1号染色体重复是一种罕见情况，关于该主题的文献极少。因此，记录有这种缺陷的患者表现，有助于指导未来患有这种基因异常的患者的管理和治疗。我们报告一例1号染色体1p31.3p31.1重复的成功病例，包括患者的初始表现、基因检测过程及患者预后。因发育不良和未达到发育里程碑而进行的基因检测发现了染色体重复。患者因喂养困难严重营养不良，导致出现精神状态改变、生长停滞、脱水和低血糖。胃造瘘管和胃底折叠术形式的干预使患者出院时的稳定性有了显著改善。持续的神经发育需要长期的认知语言治疗。目前关于1号染色体重复的出版物仅有11篇。然而，没有一篇是针对1p31.3p31.1重复的，因此本病例报告是首例此类报告。出生体重低和生长发育迟缓、腭裂畸形、智力残疾、小头畸形、心脏缺陷及生殖器模糊的患者中曾有重叠的1号染色体重复的描述。尽管这种重复罕见，但记录这些病例很重要，因为如果发现某些此类基因异常的数量更多，就可以明确将它们与患者的表型联系起来。此外，治疗方案在稳定我们患者的病情方面发挥了重要作用。报告治疗方案也很有帮助，这样未来遇到这种情况的临床医生可以采用与他们患者临床表现最相符的成功治疗方案。
