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]

"Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge". Clinical Epigenetics. 9: 111. doi:10.1186/s13148-017-0410-y. ISSN 1868-7083. PMC 5640928. [wikipredia.net]

• Developmental Delay

  Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms. [rarechromo.org]

  This suggested a diagnosis of pseudohypoparathyroidism as an explanation for his renal calculi, hypothyroidism, obesity, and developmental delay. [academic.oup.com]

• Developmental Disorder

  "A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders". Genome Research. 24 (4): 673–687. doi:10.1101/gr.160465.113. PMC 3975066. [wikipredia.net]

  "A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders". Genome Research. 24 : 673–687. doi : 10.1101/gr.160465.113. PMC 3975066. [en.wikipedia.org]

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]

Many short-statured children lack an etiologic explanation for their retarded growth. [pediatrics.aappublications.org]

Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in inbred children of consanguineous partners.[3] UPD has been found to occur in about 1 in 2,000 births.[4] Pathophysiology [wikipredia.net]

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]