Partial trisomy 15q: report of a patient and literature review.
We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.
Chandler
K
K
Division of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
Schrander-Stumpel
C T
CT
Engelen
J
J
Theunissen
P
P
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D012600:Scoliosis / Q000235:genetics; D014314:Trisomy