Human Birth Defects
- Indiana University School of Medicine
- Histology D504
- Mc Graw
- Human Birth Defects
Last Modified: 2014-08-30
Retardation, rocker-bottom feet, microphthalmia, microcephaly
Cleft lip/palate, holoprosencephaly, polydactyly
US: nuchal translucency, low B-hCG, PAPP-A
- deletion in chrom. 15
- expressed from paternal gene
- obesity, retardation, hypotonia, always hungry (grehlin)
· Microdeletion on MATERNAL 15q11.2
· Speech problems, movement issues, excitable, inappropriately happy
· NOT epigenetic, just happens to occur on an imprinted gene
· Leads to loss because it is already imprinted on the paternal chromosome
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