title: Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths.
abstract: A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq. Notably, after 2 stillbirths, she bore a healthy, normal female infant via natural pregnancy. Thus, a carrier of this karyotype can birth a phenotypically normal child.
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Dong
authors.affiliation: Center of Reproductive Medicine, Women's Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
authors.forename: S C
authors.initials: SC
authors.lastname: Chen
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
authors.forename: X W
authors.initials: XW
authors.lastname: Yu
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
authors.forename: E
authors.initials: E
authors.lastname: Fadlalla
authors.affiliation: Center of Reproductive Medicine, Women's Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
authors.forename: F
authors.initials: F
authors.lastname: Jin
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China lrz410@126.com.
authors.forename: R Z
authors.initials: RZ
authors.lastname: Liu
mesh_terms: D058674:Chromosome Duplication; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D050497:Stillbirth; D055815:Young Adult