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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/79580


    Title: A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation
    Authors: 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: 12p11.22–p11.21 deletion;22q11.2 duplication;autism;DDX11
    Date: 2014-03
    Issue Date: 2014-06-04 10:20:32 (UTC+8)
    Abstract: Objective
    To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22–p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2).

    Materials and methods
    A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient.

    Results
    aCGH analysis revealed a 1.37-Mb 12p11.22–p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008–32,014,774) × 1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470–19,024,306) × 3. The 1.37-Mb 12p11.22–p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2.

    Conclusion
    An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22–p11.21 microdeletion and 22q11.2 microduplication
    Relation: Taiwanese Journal of Obstetrics & Gynecology, 53(1):74-78.
    Appears in Collections:[生物科技學系] 期刊論文

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