A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period
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 کاملRing 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 کامل[A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis].
Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital a...
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...
متن کاملRing chromosome 18 in a patient with multiple anomalies.
Ring chromosomes, long of interest in cytogenetics, have been intensively studied in corn and Drosophila (McClintock, 1932, 1938; Morgan, 1933; Battacharya, 1950) and also described in Crepis, Tulipa, Tradescantia, and other species. In the past few years, a number of reports of ring chromosomes in man have appeared (Table I). We recently encountered a mentally retarded patient with multiple co...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2020
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000509646