The overeating often results in rapid weight gain, obesity, and type 2 diabetes. People with PWS have short stature, small hands and feet, and intellectual disability. [healthlibrary.uchospitals.edu]

Babies born with PWS have poor muscle tone and a weak cry. They initially are slow feeders and appear undernourished. The feeding problems improve after infancy. [healthlibrary.uchospitals.edu]

jaundice Yes Yes Yes Neonatal hypoglycemia Yes Yes TSH resistance Yes Yes External genitalia Cryptorchidism Small penis buried in suprapubic fat Other medical problems Craniosynostosis Slipped capital femoral epiphyses Hypertension, focal seizures NA [academic.oup.com]

He is currently on oral enalapril because overnight blood pressure monitoring showed diastolic hypertension. An ultrasound scan showed multiple renal calculi. A renal magnetic resonance angiogram and cardiac echocardiogram were normal. [academic.oup.com]

For example, a crossover at meiosis I in, say, the distal long arm, followed by meiosis I nondisjunction, could lead to a disomic gamete isodisomic for distal long arm, and heterodisomic for proximal long arm (Fig. 22–1a, lower right). [oxfordmedicine.com]

Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. [5] Other conditions, such as Beckwith–Wiedemann syndrome, are associated with abnormalities of imprinted genes on the short arm [en.wikipedia.org]

It showed segmental paternal UPD for at least 20 Mb of the long arm of chromosome 20 ( Table 2 ). Table 2. [academic.oup.com]

People with PWS have short stature, small hands and feet, and intellectual disability. Consult your healthcare provider or genetic counselor for more information on uniparental disomies. [healthlibrary.uchospitals.edu]

144.3 ( 97th centile) 162 ( 1.6 sd ) 119.5 (95th centile) 154 ( 1 SD) 160 ( 2 sd ) 166 (50th centile) 108 (10th centile) OFC (cm) 54.7 ( 2 sd ) NA 3 sd 3.3 sd Normal Normal 56 (50th centile) 49 (0.4th centile) Brachydactyly No No No No No No No No Round [academic.oup.com]

They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome can result when a baby inherits both copies of a section of chromosome #15 from the father (rather than 1 from the mother, and 1 from the father). [healthlibrary.uchospitals.edu]

Seizures stopped around the age of 1 yr but recommenced 2 yr later when he presented with several episodes of prolonged afebrile seizures and he was started on carbamazepine. [academic.oup.com]

Initially, these were confined to his legs and associated with a paresthesia in the form of pins and needles. These brief episodes were only 1–2 min in duration, and he experienced several such episodes daily. [academic.oup.com]

He was clumsy, with immature fine motor skills, and had very limited self-care skills. [academic.oup.com]

He had a number of febrile focal seizures from 6 months of age but was not seen by medical practitioners until aged 9 months when he presented with gross obesity (weight 18 kg, 10 sd above mean), hypertension (blood pressure, 210/150 mm Hg), a palpable [academic.oup.com]