title: Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes.
abstract: We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case.
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: Ming-Chao
authors.initials: MC
authors.lastname: Huang
authors.forename: Yi-Yung
authors.initials: YY
authors.lastname: Chen
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: Dai-Dyi
authors.initials: DD
authors.lastname: Town
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics; D000028:Abortion, Induced; D000649:Amniocentesis / Q000379:methods; D002478:Cells, Cultured; D002531:Cerebellum / Q000002:abnormalities; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D057895:Haploinsufficiency; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009421:Nervous System Malformations / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C118136:TPPP protein, human; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548467:SRD5A1 protein, human