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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16910


    Title: Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: I Iq deletion;Jacobsen syndrome;Reciprocal translocation.
    Date: 2012-06
    Issue Date: 2012-11-23 17:18:20 (UTC+8)
    Abstract: We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without genomic imbalances in other chromosomes. Cytogenetic analysis revealed a karyotype of 46,XX,der(7)(7pter-->7q32),der(11)(11pter--> 11q23.3::7q32-->7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
    Relation: GENETIC COUNSELING
    Appears in Collections:[生物科技學系] 期刊論文

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