Chromosome 1q terminal deletion resulting fromde novo translocation with an acrocentric chromosome
نویسندگان
چکیده
منابع مشابه
A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
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OBJECTIVE To describe the prenatal phenotype of the 11q deletion syndrome (Jacobsen syndrome) and present the molecular characterization of the deletion in the case presented. CASE Ultrasound at 18 and 20 weeks of gestation, on a 34-year-old woman who presented for amniocentesis, revealed slow movements, oligohydramnios and dilatation of the cerebral ventricles in the fetus. Maternal and pate...
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Chromosome 1q? Levinson et al. (1) reported the results of a meta-analysis of families showing no major schizophrenia locus on chromosome 1q. These results, based on a multicenter study of affected sibling pairs (ASPs), are in striking contrast to findings of several recent papers reporting susceptibility loci on 1q in extended families. Significant linkage (LOD 6.5) at 1q21-22 was detected in ...
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ژورنال
عنوان ژورنال: Japanese Journal of Human Genetics
سال: 1994
ISSN: 0021-5074
DOI: 10.1007/bf01892389