A familial complex chromosome translocation resulting in duplication of 6p25.
We report on a girl with psychomotor retardation, severe speech developmental delay and mild dysmorphic features. Molecular cytogenetic analysis showed that the patient was carrier of an insertion (6)(p22.5-->22.4) in chromosome 12. Analysis of the chromosomes of the mother revealed the presence of a complex chromosomal rearrangement. In addition to the insertion (6)(p22.5-->22.4) in chromosome 12 and a pericentric inversion in chromosome 12, the 6p subtelomeric region was absent in the mother. This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported.
Vermeesch
J R
JR
Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Thoelen
R
R
Fryns
Jean Pierre
JP
D002478:Cells, Cultured / Q000648:ultrastructure; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D007446:Chromosome Inversion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics / Q000648:ultrastructure*; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics; D008214:Lymphocytes / Q000648:ultrastructure; D016254:Mutagenesis, Insertional; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy