Ring chromosome 4.
نویسندگان
چکیده
منابع مشابه
Ring Chromosome 18: A Case Report
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...
متن کاملCongenital malformations associated with a ring 4 chromosome.
Ring chromosomes in man have been described not only as interesting phenomena associated with irradiation and neoplasia (Levan, 1956; Tough et al., 1960; Bender and Gooch, 1962; Jensen, 1966) but also as a probable cause of congenital malformations (Palmer, Fareed, and Merritt, 1967). In the cases of congenital malformations so far ascribed to ring chromosomes, the B group has been involved onl...
متن کاملD13 ring chromosome syndrome.
A case of ring D13 chromosome, confirmed by trypsin banding, is described. Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males.
متن کاملRing chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.
A four-year-old boy with ring chromosome 17 presenting with early-onset, pharmacoresistant epilepsy underwent repeated 24-hour video-EEG monitoring and cytogenetic analyses, including fluorescent in situ hybridization with telomeric and locus-specific probes of chromosome 17. Epilepsy was characterized by nocturnal motor seizures and by prolonged diurnal electrical status epilepticus. The 46, X...
متن کاملa case of autism with ring chromosome 14.
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 autism.we e...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1977
ISSN: 1468-6244
DOI: 10.1136/jmg.14.3.228