title: Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.
abstract: We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus-specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome.
authors.affiliation: Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-2501, USA. goodman@welchlink.welch.jhu.edu
authors.forename: B K
authors.initials: BK
authors.lastname: Goodman
authors.forename: K
authors.initials: K
authors.lastname: Stone
authors.forename: J M
authors.initials: JM
authors.lastname: Coddett
authors.forename: C B
authors.initials: CB
authors.lastname: Cargile
authors.forename: E D
authors.initials: ED
authors.lastname: Gurewitsch
authors.forename: K J
authors.initials: KJ
authors.lastname: Blakemore
authors.forename: G
authors.initials: G
authors.lastname: Stetten
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000000981:diagnostic imaging; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D020440:Gene Duplication; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal