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
| Autor: | Shu Liu, Nuan Chen, Weihong Zeng, Haimei OuYang, Xunjie Xie, Sisi Wei, Zhiqing Wang, Jinqun Liang, Liying Chen, Jianhui Jiang |
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| Rok vydání: | 2018 |
| Předmět: |
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 |
| Zdroj: | Cytogenetic and Genome Research. 154:201-208 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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