title: Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1→q31.1).
abstract: We present prenatal diagnosis and molecular cytogenetic characterization of de novo interstitial deletion of 7q (7q22.1→q31.1) by aCGH, FISH and QF-PCR in a fetus with an abnormal maternal serum screening result and ultrasound findings of facial cleft and hypogenitalism. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, LAMB1, IMMP2L and DOCK4 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: Shing-Jyh
authors.initials: SJ
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: Yu-Ting
authors.initials: YT
authors.lastname: Chen
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Wen-Lin
authors.initials: WL
authors.lastname: Chen
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D003582:Cytogenetics / Q000379:methods; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D057895:Haploinsufficiency; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D000091042:Reelin Protein; D017384:Sequence Deletion; D016216:Ultrasonography, Prenatal / Q000379:methods