Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review
| العنوان: | Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review |
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| المؤلفون: | Shu Liu, Nuan Chen, Weihong Zeng, Haimei OuYang, Xunjie Xie, Sisi Wei, Zhiqing Wang, Jinqun Liang, Liying Chen, Jianhui Jiang |
| المصدر: | Cytogenetic and Genome Research. 154:201-208 |
| بيانات النشر: | S. Karger AG, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Gray matter heterotopia, Microcephaly, Pathology, medicine.medical_specialty, Candidate gene, Developmental Disabilities, Ring chromosome, Biology, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Cytogenetic Abnormality, Intellectual disability, Genetics, medicine, Humans, Ring Chromosomes, Gray Matter, Child, Molecular Biology, Genetics (clinical), 10 year follow up, Infant, Karyotype, Middle Aged, medicine.disease, 030104 developmental biology, Child, Preschool, Face, Chromosomes, Human, Pair 6, Female, 030217 neurology & neurosurgery, Follow-Up Studies |
| الوصف: | Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known. |
| تدمد: | 1424-859X 1424-8581 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20db7deed22d6effbfddbc3c04ab040cTest https://doi.org/10.1159/000488692Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....20db7deed22d6effbfddbc3c04ab040c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1424859X 14248581 |
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