Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
نویسندگان
چکیده
منابع مشابه
Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis
Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single-suture craniosynostosis f...
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15 صفحه اولHuman skull with complete metopic suture and multiple sutural bones at lambdoid suture – a case report
Introduction Frontal bone of the skull develops in two halves during the fetal life separated by the metopic suture. The suture normally disappears soon after the birth [1]. The persistent complete metopic suture extending from the nasion to bregma is called metopism [2]. Lambda represent the meeting point of the sagittal and lambdoid suture. It represents the site of posterior median fontanel ...
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A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation. A 1.9 Mb deletion located within 1q42.11-q42.12 was validated at the molecular cytogenetic leve...
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ژورنال
عنوان ژورنال: Journal of Applied Genetics
سال: 2018
ISSN: 1234-1983,2190-3883
DOI: 10.1007/s13353-018-0447-4