title: Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith-Wiedemann syndrome.
abstract: OBJECTIVE
  To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith-Wiedemann syndrome (BWS).
  
  
  METHODS
  A 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization-intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer. Fetal ultrasound revealed a left-sided congenital diaphragmatic hernia, overgrowth of the fetus, and an enlarged placenta. After genetic counseling and careful deliberation by the family, the pregnancy was subsequently terminated at 22+ weeks of gestation, delivering a fetus weighing 810 g (85thto 90thcentile) and a placenta of 325 g (85thto 90thcentile). To further delineate the nature of the rearrangement involved in the defective chromosome 11, repeat chromosomal analyses, including array comparative genomic hybridization (aCGH) test and quantitative fluorescence-polymerase chain reaction (QF-PCR) using short tandem repeat (STR) markers, were performed by sampling fetal tissue. The final result confirmed a diagnosis of 46,XY,del(11)(q24.3q25),dup(11)(p14.3p15.5). The abnormal chromosome 11 was inherited from the father and the duplicated segment involved 11p15.5, a critical imprinting region for BWS.
  
  
  CONCLUSIONS
  We presented a prenatally detected chromosomal aberration characterized by paternal duplication of chromosome 11p15.5, which strongly related to the phenotypic manifestation of BWS.
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Kuan Ju
authors.initials: KJ
authors.lastname: Chen
authors.affiliation: Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Keelung Chang Gung Memorial Hospital, Keelung City, Taiwan.
authors.forename: Yu Mei
authors.initials: YM
authors.lastname: Liu
authors.affiliation: Department of Medicine, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors.forename: Chien Hong
authors.initials: CH
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Yao Lung
authors.initials: YL
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan. Electronic address: gene@cgmh.org.tw.
authors.forename: Shuenn Dyh
authors.initials: SD
authors.lastname: Chang
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics*; D058674:Chromosome Duplication; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D005817:Genetic Counseling; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging*; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: Beckwith–Wiedemann syndrome; array comparative genomic hybridization; karyotyping; short tandem repeat marker