نتایج جستجو برای: ring chromosome 14
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Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His ka...
the gene encoding alpha fetoprotein (locus symbol afp) was assigned to rat chromosome 14 at band p21-p22 using fluorescence in situ hybridization method. the present result suggests that there is a conserved syntenic group between human 4q11-q13, mouse 5f-g, and rat 14p21-p22.
Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyu...
BACKGROUND Autism is a complex neuropsychiatric disorder that manifests in early childhood. Although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. The main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and ...
BACKGROUND Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and exper...
uniparental disomy (upd) is a situation in which both members of a chromosome pair are inherited from one parent. this study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. the parents were first cousins and they both had robertsonian translocation between their long arm of chromosome 13 and 14 [45, xy t (13q14q)]. their affected son had a similar k...
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
A mildly dysmorphic, 2 year old girl with mental retardation was found to have a small de novo terminal deletion of the long arm of chromosome 14, del(14)(q32.3). She was found to have features in common with two previous terminal deletion cases and particularly with the well documented ring 14 syndrome, although seizures, a characteristic feature of ring 14, were notably absent.
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