title: Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.
abstract: We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22).
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Tsang-Ming
authors.initials: TM
authors.lastname: Ko
authors.forename: Yi-Yung
authors.initials: YY
authors.lastname: Chen
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005124:Eye Abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers
keywords: Amniocentesis; CES; Cat eye syndrome; DGS; DiGeorge syndrome; FISH; IUGR; LCR; MLPA; Mosaicism; OMIM; Online Mendelian Inheritance in Man; Prenatal diagnosis; Small supernumerary marker chromosome 22; TAPVR; VCFS; aCGH; array comparative genomic hybridization; cat eye syndrome; fluorescence in situ hybridization; intrauterine growth restriction; inv dup; inverted duplication; low-copy repeats; mar; marker chromosome; multiplex ligation-dependent probe amplification; sSMC; sSMC(22); small supernumerary marker chromosome; total anomalous pulmonary venous return; velocardiofacial syndrome