Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
Objective: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dy...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2016-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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