Maternal uniparental disomy 14 (matUPD14) comprises the majority of UPD 14 cases and has been most commonly associated with short stature, scoliosis, hypotonia, obesity, mental and developmental delays, precocious puberty, and intrauterine growth retardation. Paternal uniparental disomy 14 (patUPD14) appears less frequently than matUPD14 and is associated with a more severe phenotype. Reported features include small thorax and abnormal ribs, small ears, protruding philtrum, short palpebral fissures, simian creases, hirsute forehead, blepharophimosis, joint contractures, and mental retardation.
2 - 4 weeks
Specimen Types Accepted