Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. [electronic resource]
Producer: 20080104Description: 434-40 p. digitalISSN:- 0009-9163
- 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
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Publication Type: Case Reports; Journal Article
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