title: Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.
abstract: We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype-phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Yao-Lung
authors.initials: YL
authors.lastname: Chang
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Wen-Lin
authors.initials: WL
authors.lastname: Chen
authors.forename: Li-Feng
authors.initials: LF
authors.lastname: Chen
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D005333:Fetus; D056726:Genetic Association Studies; D006801:Humans; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012600:Scoliosis / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics