title: A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
abstract: We report on a 2-year-old dysmorphic girl with prenatal and postnatal growth deficiency, cardiopathy, left-sided hydronephrosis due to pyelourethral junction stenosis, frequent respiratory infections and psychomotor retardation, in whom a de novo unbalanced submicroscopic translocation (11q;20q) was detected by subtelomeric multiplex ligation-dependent probe amplification and fluorescence in situ hybridization analyses. Additional fluorescence in situ hybridization studies with locus-specific BAC probes and analyses with microsatellite markers revealed that this translocation resulted in a paternal chromosome 11q terminal deletion of approximately 8.9 Mb and a subtelomeric 20q duplication of approximately 3.7 Mb. A subtelomeric 20q trisomy has only been reported in four cases so far. A subtelomeric 11q deletion has been clinically reported in 18 patients. We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome.
authors.affiliation: Department of Human Genetics, University Hospital St-Luc UCL, Brussels, Belgium. winnie.courtens@gmed.ucl.ac.be
authors.forename: Winnie
authors.initials: W
authors.lastname: Courtens
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: Marek
authors.initials: M
authors.lastname: Wojciechowski
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Stefan
authors.initials: S
authors.lastname: Scheers
authors.forename: Rob
authors.initials: R
authors.lastname: van Luijk
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: Frank
authors.initials: F
authors.lastname: Kooy
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D013577:Syndrome; D016615:Telomere / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*