title: Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies.
abstract: A newborn girl with features of Turner and Cri du chat syndromes was found to have a pseudodicentric 5;X chromosome. Her karyotype was 45,X, psu dic(5;X)(p15.2;p22.1). The net result was monosomy for 5p15.2-pter and Xp22.1-pter. Fluorescence in situ hybridization (FISH) showed the Cri du chat region was deleted. Replication banding studies to assess the X-inactivation pattern found only the X portion of the pseudodicentric chromosome to be late replicating without any apparent spread of inactivation into chromosome 5 segment. There are only two cases reported with a dicentric X; autosome. In this paper, we compare the cytogenetics of the present case and those in the literature.
authors.affiliation: Cytogenetic Laboratory, Quest Diagnostics Inc, San Juan Capistrano, CA, USA.
authors.forename: K S
authors.initials: KS
authors.lastname: Reddy
authors.forename: D L
authors.initials: DL
authors.lastname: Smith
authors.forename: C S
authors.initials: CS
authors.lastname: Ball
mesh_terms: D002871:Chromosome Banding / Q000379:methods*; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D004261:DNA Replication; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome