A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction - PubMed (original) (raw)

A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction

S Roberts et al. J Med Genet. 2002 Feb.

No abstract available

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.
Gyftodimou J, Karadima G, Pandelia E, Vassilopoulos D, Petersen MB. Gyftodimou J, et al. Clin Genet. 1999 Jun;55(6):483-6. doi: 10.1034/j.1399-0004.1999.550615.x. Clin Genet. 1999. PMID: 10450868
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.
Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll MD. Poyatos D, et al. J Med Genet. 2002 Feb;39(2):E4. doi: 10.1136/jmg.39.2.e4. J Med Genet. 2002. PMID: 11836373 Free PMC article. No abstract available.
Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship.
Harpey JP, Heron D, Prudent M, Lesourd S, Henry I, Royer-Legrain G, Munnich A, Bonnefont JP. Harpey JP, et al. Am J Med Genet. 1998 Feb 26;76(1):103-4. Am J Med Genet. 1998. PMID: 9508076 No abstract available.
Angelman syndrome: a review of clinical and genetic aspects.
Laan LA, v Haeringen A, Brouwer OF. Laan LA, et al. Clin Neurol Neurosurg. 1999 Sep;101(3):161-70. doi: 10.1016/s0303-8467(99)00030-x. Clin Neurol Neurosurg. 1999. PMID: 10536901 Review.
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.
Niida Y, Sato H, Ozaki M, Itoh M, Ikeno K, Takase E. Niida Y, et al. Cytogenet Genome Res. 2016;149(4):247-257. doi: 10.1159/000450847. Epub 2016 Oct 22. Cytogenet Genome Res. 2016. PMID: 27771696 Review.

Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.
Hu YA, Cui Y, Fan X, Wu Q, Li W, Wang W. Hu YA, et al. Mol Cytogenet. 2016 May 3;9:37. doi: 10.1186/s13039-016-0248-6. eCollection 2016. Mol Cytogenet. 2016. PMID: 27148405 Free PMC article.
Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Kwasnicka-Crawford DA, Roberts W, Scherer SW. Kwasnicka-Crawford DA, et al. J Autism Dev Disord. 2007 Apr;37(4):694-702. doi: 10.1007/s10803-006-0225-8. J Autism Dev Disord. 2007. PMID: 17006779