title: [Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion].
abstract: Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.
authors.affiliation: Department of Laboratory Medicine, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Se Jin
authors.initials: SJ
authors.lastname: Mun
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: Myoung-Jae
authors.initials: MJ
authors.lastname: Chey
authors.forename: Gyu-Hong
authors.initials: GH
authors.lastname: Shim
authors.forename: Bo-Moon
authors.initials: BM
authors.lastname: Shin
authors.forename: Rae-Kyung
authors.initials: RK
authors.lastname: Lee
authors.forename: Ji-Kyung
authors.initials: JK
authors.lastname: Ko
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Yoo
mesh_terms: D002872:Chromosome Deletion; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D010996:Pleural Effusion / Q000000981:diagnostic imaging; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D014463:Ultrasonography; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*