دورية أكاديمية
Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation
| العنوان: | Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation |
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| المؤلفون: | Judith Fan, T. Niroshini Senaratne, Jason Y. Liu, Michelle Bina, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera, Jessica J. Wang |
| المصدر: | BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023) |
| بيانات النشر: | BMC, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | 4q translocation, 10p translocation, Unbalanced translocation, Monosomy 4q, Monosomy 10p, Trisomy 4q, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Unbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and congenital anomalies. They may arise de novo or may be inherited from a parent carrying a balanced rearrangement. It is estimated that 1/500 people is a balanced translocation carrier. The outcomes of different chromosomal rearrangements have the potential to reveal the functional consequences of partial trisomy or partial monosomy and can help guide genetic counseling for balanced carriers, and other young patients diagnosed with similar imbalances. Methods We performed clinical phenotyping and cytogenetic analyses of two siblings with a history of developmental delay (DD), intellectual disability (ID) and dysmorphic features. Results The proband, a 38-year-old female, has a history of short stature, dysmorphic features and aortic coarctation. She underwent chromosomal microarray analysis, which identified partial monosomy of 4q and partial trisomy of 10p. Her brother, a 37-year-old male, has a history of more severe DD, behavioral problems, dysmorphic features, and congenital anomalies. Subsequently, karyotype confirmed two different unbalanced translocations in the siblings: 46,XX,der(4)t(4;10)(q33;p15.1) and 46,XY,der(10)t(4;10)(q33;p15.1), respectively. These chromosomal rearrangements represent two possible outcomes from a parent who is a carrier for a balanced translocation 46,XX,t(4;10)(q33;p15.1). Conclusion To our knowledge, this 4q and 10p translocation has not been described in literature. In this report we compare clinical features due to the composite effects of partial monosomy 4q with partial trisomy 10p and partial trisomy 4q with partial monosomy 10p. These findings speak to the relevance of old and new genomic testing, the viability of these segregation outcomes, and need for genetic counseling. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1755-8794 58067825 |
| العلاقة: | https://doaj.org/toc/1755-8794Test |
| DOI: | 10.1186/s12920-023-01491-1 |
| الوصول الحر: | https://doaj.org/article/58067825384243b88f11aff596c9d9d0Test |
| رقم الانضمام: | edsdoj.58067825384243b88f11aff596c9d9d0 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17558794 58067825 |
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| DOI: | 10.1186/s12920-023-01491-1 |