التفاصيل البيبلوغرافية
| العنوان: |
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation |
| المؤلفون: |
Chen, Na, Zeng, Wenshan, Luo, Yuqin, Dong, Minyue |
| المصدر: |
Molecular Syndromology ; page 1-8 ; ISSN 1661-8769 1661-8777 |
| بيانات النشر: |
S. Karger AG |
| سنة النشر: |
2024 |
| الوصف: |
Introduction: Partial 17q duplication is a rare chromosome abnormality. Features include severe psychomotor retardation, intellectual disability, facial dysmorphism, proximal limb shortness, and hyperlaxity of limb joints. Case Presentation: The proband is a 7-year and 4-month-old boy with developmental delay, facial abnormality, joint laxity and scoliosis, ventriculomegaly, hydrocephalus, hypophosphatemia, and squint, while his older brother is a fetus who was aborted at 33rd week of gestation because of multiple malformations including ventriculomegaly and moderate hydrocephalus. Both siblings have features such as ventriculomegaly and hydrocephalus. Conclusion: Here, we report 2 sibling cases with 17q25 duplication from a maternal translocation t(14;17). Our findings expanded the clinical spectra and described the fetal phenotype of 17q25 microduplication. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1159/000538979 |
| DOI: |
10.1159/000538979/4233281/000538979.pdf |
| الإتاحة: |
https://doi.org/10.1159/000538979Test |
| حقوق: |
https://karger.com/pages/terms-and-conditionsTest ; https://karger.com/pages/terms-and-conditionsTest |
| رقم الانضمام: |
edsbas.8A9AAF0D |
| قاعدة البيانات: |
BASE |
