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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/110705


    Title: Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones
    Authors: 陳持平;Chen, Chih-Ping;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Ya, Chien-Wen;Yang, Chien-Wen;Chen, Li-Feng;Wang, Wayseen
    Contributors: 生物科技學系
    Date: 2017-12
    Issue Date: 2018-04-03 09:13:11 (UTC+8)
    Abstract: Objective
    We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype–phenotype correlation.

    Materials and methods
    A 32-year-old woman underwent amniocentesis at 22 weeks of gestation because of bilateral cleft lip and palate and short limbs on prenatal ultrasound. Conventional cytogenetic analysis was performed on cultured amniocytes and parental bloods. Oligonucleotide array comparative genomic hybridization (aCGH) was performed on the DNAs extracted from uncultured amniocytes, parental bloods and umbilical cord. Metaphase fluorescence in situ hybridization (FISH) was performed on cultured amniocytes.

    Results
    Amniocentesis revealed a karyotype of 46,XY. The parental karyotypes were normal. aCGH analysis on uncultured amniocytes revealed a 1.66-Mb interstitial microdeletion at 4p16.3 encompassing 23 Online Mendelian Inheritance of in Man (OMIM) genes including FGFRL1 and TACC3. The parents did not have such a deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with typical Wolf-Hirschhorn syndrome (WHS) facial appearance and bilateral cleft lip and palate. aCGH analysis of the umbilical cord confirmed the prenatal diagnosis with a result of arr 4p16.3 (72,447–1,742,649) × 1.0 [GRCh37 (hg19)]. Metaphase FISH analysis of cultured amniocytes confirmed a 4p16.3 microdeletion.

    Conclusion
    Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

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