A small supernumerary marker chromosome X identified by in situ hybridization.
Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.
Silahtaroglu
A N
AN
Division of Biomedical Sciences, Cerrahpasa Medical Faculty, Istanbul University, Turkey.
Hacihanefioglu
S
S
Yilmaz
S
S
Tarkan
Y
Y
Cenani
A
A
Tümer
Z
Z
D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D015342:DNA Probes; D004276:DNA, Satellite; D005145:Face / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D013064:Speech Disorders / Q000235:genetics; D014960:X Chromosome
D015342:DNA Probes; D004276:DNA, Satellite; D005819:Genetic Markers