دورية أكاديمية
Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report
| العنوان: | Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report |
|---|---|
| المؤلفون: | Woo Kyung Kim, Na Mi Lee, In Seok Lim, Soo Ahn Chae, Sin Weon Yun, Dae Yong Yi, Su Yeong Kim |
| المصدر: | Neonatal Medicine, Vol 29, Iss 2, Pp 91-95 (2022) |
| بيانات النشر: | Korean Society of Neonatology, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | trisomy, chromosomes, human, pair 1, development, rehabilitation, Pediatrics, RJ1-570 |
| الوصف: | Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or liver failure. This case report describes an 18-month-old patient with partial duplication of the 1q32-44 segments and consequent developmental delays who exhibited improvement in developmental status with rehabilitation. Prenatal ultrasonography and magnetic resonance imaging of the mother revealed ventriculomegaly and atrophic changes in the left cerebral hemisphere of the fetus. The infant was born with micrognathia, microphthalmia, macrocephaly, low-set ears, polydactyly, and long feet at 37+5 weeks of gestation. A chromosomal study revealed an abnormal male karyotype of 46,XY,rec(1)dup(1)(q32.1q44)inv(1)(p36.3q32.1)pat. In this rare case of a patient with partial trisomy, we observed improvement in developmental delays following treatment using appropriate rehabilitation techniques. Further research is required to help validate the findings of this case study and establish a standardized rehabilitation technique that can be subsequently applied to such cases. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Korean |
| تدمد: | 2287-9412 2287-9803 |
| العلاقة: | http://neo-med.org/upload/pdf/nm-2022-29-2-91.pdfTest; https://doaj.org/toc/2287-9412Test; https://doaj.org/toc/2287-9803Test |
| DOI: | 10.5385/nm.2022.29.2.91 |
| الوصول الحر: | https://doaj.org/article/2e7d7d295489436f891867590f9aab36Test |
| رقم الانضمام: | edsdoj.2e7d7d295489436f891867590f9aab36 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 22879412 22879803 |
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| DOI: | 10.5385/nm.2022.29.2.91 |