Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using fluorescence in situ hybridization (FISH), we located the breakpoints in the 1.5-Mb area defined by YAC 753f5 (5q35.2) and within the approximately 2-Mb interval between 10cen and YAC 933a3 (10q11.21).
Zhu
G
G
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Gillessen-Kaesbach
G
G
Wirth
J
J
Passarge
E
E
Bartsch
O
O
D002675:Child, Preschool; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic