%0 Journal Article 
%T Detección de un caso síndrome de Pallister-Killian diagnosticado por citogenética convencional
%D 2015
%@ 0034-7531
%U http://hdl.handle.net/10906/81645
%X Pallister-Killian syndrome occurs from a tetrasomy of chromosome 12 short arm in
some body cells due to the presence of isochromosome (12p) whereas the rest of
cells have normal chromosomal complement. This phenomenon is called
chromosomal mosaicism. It is considered to occur sporadically, with very low
chance of recurrence and affects both women and men. Pallister-Killian syndrome
or tetrasomy 12p mosaicism has wide non-specific phenotype characterized by
higher frequency of hypotonia, severe mental retardation, deafness and seizures
that may worsen as age increases. This is the report of a child diagnosed with
Pallister-Killian syndrome in Colombia, which makes reference to difficulties in
diagnosing a chromosomal anomaly, since this syndrome is not suspected and the
testing for conventional karyotype may provide negative results.
%K Ciencias  socio biomédicas
%K Anomalías congénitas
%K Medical sciences
%K Síndrome de Pallister-Killian
%K Genética
%~ GOEDOC, SUB GOETTINGEN