Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
نویسندگان
چکیده
منابع مشابه
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose ...
متن کاملI-45: FISH and Array CGH for PGD of Cancer
We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for c...
متن کاملMosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child
IntroductIon The tetrasomy 18p (OMIM 614290) is a very rare chromosomal abnormality, with a prevalence of 1/140,000–180,000 live births.[1] Although it has been known in some countries, it has been seldom reported in China. Especially, mosaicism for tetrasomy 18p is even rare. Because of a very limited number of cases, the phenotypic spectrum of mosaic tetrasomy 18p, the complications, and prog...
متن کاملOphthalmic manifestations of tetrasomy 18p.
PURPOSE To characterize ophthalmic findings in patients with tetrasomy 18p, a rare chromosomal anomaly that has been previously associated with strabismus. METHODS All subjects underwent a complete eye examination to screen for ocular pathology. RESULTS A total of 25 subjects (13 female) were examined after they were diagnosed with tetrasomy 18p. The average age of subjects was 8.2 years (r...
متن کاملComprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.
Gangliogliomas are generally benign neuroepithelial tumors composed of dysplastic neuronal and neoplastic glial elements. We screened 61 gangliogliomas [World Health Organization (WHO) grade I] for genomic alterations by chromosomal and array-based comparative genomic hybridization (CGH). Aberrations were detected in 66% of gangliogliomas (mean +/- SEM = 2.5 +/- 0.5 alterations/tumor). Frequent...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2019
ISSN: 1755-8166
DOI: 10.1186/s13039-019-0414-8