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.
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.
Reddy
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KS
Cytogenetic Laboratory, Quest Diagnostics Inc, San Juan Capistrano, CA, USA.
Smith
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DL
Ball
C S
CS
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