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Uniparental Disomy

UPD


Presentation

  • Useful For Suggests clinical disorders or settings where the test may be helpful Evaluation of patients presenting with mosaicism, confined placental mosaicism, or Robertsonian translocations Evaluation of patients presenting with features of disorders[mayocliniclabs.com]
  • If that section of the mother's chromosome #15 is deleted, only the father's section will be present, allowing AS symptoms to occur. This deletion of a section of the maternally inherited chromosome is the most common cause of AS.[healthlibrary.uchospitals.edu]
  • Methods Patient information Tumor-extracted DNA from 185 untreated patients with FL presenting between 1974 and 2001 was obtained through the Lymphoma/Leukemia Molecular Profiling Project (LLMPP).[bloodjournal.org]
  • We have reported two additional patients with patUPD20 causing PHP1b and reviewed the clinical presentation of the other patients reported in literature.[academic.oup.com]
Weight Gain
  • 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]
Crying
  • 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]
Neonatal Jaundice
  • 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]
Diastolic Hypertension
  • 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]
Small Hand
  • 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]
Round Face
  • ) 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]
Seizure
  • 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]
Paresthesia
  • 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]
Clumsiness
  • He was clumsy, with immature fine motor skills, and had very limited self-care skills.[academic.oup.com]
Focal Seizure
  • 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]

Treatment

  • For conversion to SI units, multiply with the following factors: calcium, 0.25; phosphorus, 0.323; 25-hydroxyvitamin D, 2.496. a Measurement while on treatment with 1-hydoxycholecalciferol. b Treatment with cholecalciferol commenced. c Treatment commenced[academic.oup.com]

Etiology

Pathophysiology

  • Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners. [3] Pathophysiology [ edit ] UPD can occur as a random event during the[en.wikipedia.org]

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