[Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year].
In this short report we present a 1 year old female child with tetrasomy 12p (Pallister-Killian syndrome) and emphasize the importance of the recognition of the dysmorphic stigmata of this MR/MCA syndrome.
Chrzanowska
K
K
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome
La tétrasomie 12p (syndrome de Pallister-Killian):un diagnostic possible avant l'âge d'un an.