Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Huang, X-L

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. [electronic resource] - Clinical genetics Nov 2007 - 434-40 p. digital

Publication Type: Case Reports; Journal Article

0009-9163

10.1111/j.1399-0004.2007.00894.x doi


Abnormalities, Multiple--genetics
Alopecia--genetics
Cells, Cultured
Child, Preschool
Chromosome Disorders--genetics
Chromosome Inversion
Chromosomes, Human, Pair 12
Gene Duplication
Genetic Markers
Humans
Hypertelorism--genetics
In Situ Hybridization, Fluorescence
Male
Muscle Hypotonia--genetics
Nystagmus, Congenital--genetics
Polyploidy
Syndrome