AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.490-494, 2014 (Journal Indexed in SCI)
We report on a girl who presented with distinctive abducted hip
and hyperextended knee. Cytogenetic analysis detected an extra
derivative chromosome resulting from a balanced translocation
in the mother and 3:1 segregation. Using array comparative
genomic hybridization (CGH) in combination with conventional
high resolution GTG banding, we designate the karyotype as
47, XX,
şder(9)t(1;9)(q41;q21.32)mat, indicating tertiary trisomy
of chromosome segments 1q41-qter and 9pter-9q21.32. A
review and genotype–phenotype correlation suggested that the
patient represented most of the manifestations of duplication of
chromosome arms 1q and 9p. To our knowledge, a similar case
has so far not been reported.