A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.
We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted genes within the given breakpoints and the phenotype of the case will be discussed.
Karaman
Birsen
B
Department of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.
Rosti
Rasim Ozgür
RO
Yilmaz
Kader
K
Oztürk
Havva
H
Kayserili
Hülya
H
Başaran
Seher
S
D057215:Body Dysmorphic Disorders / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic