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Quoted phrase not found in phrase index: "Chromosome 22q13 duplication syndrome"
Page 1
The genetic landscape of autism spectrum disorders.
Rosti RO, Sadek AA, Vaux KK, Gleeson JG. Rosti RO, et al. Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Dev Med Child Neurol. 2014. PMID: 24116704 Free article. Review.
Based on this new information, we outline a strategy for advancing diagnosis, prognosis, and counseling for patients and families....
Based on this new information, we outline a strategy for advancing diagnosis, prognosis, and counseling for patients and families....
Copy number variations in three children with sudden infant death.
Toruner GA, Kurvathi R, Sugalski R, Shulman L, Twersky S, Pearson PG, Tozzi R, Schwalb MN, Wallerstein R. Toruner GA, et al. Clin Genet. 2009 Jul;76(1):63-8. doi: 10.1111/j.1399-0004.2009.01161.x. Clin Genet. 2009. PMID: 19659761
In case 1, an approximately 3-Mb (chr 8: 143,211,215-qter) duplication on 8q24.3-qter and a 4.4-Mb deletion on the 22q13.3-qter (chr 22: 45,047,068-qter) were detected. ...A 240-kb (chr 6: 26,139,810-26,380,787) duplication and a 1.9-Mb deletion (chr 6: 26,08 …
In case 1, an approximately 3-Mb (chr 8: 143,211,215-qter) duplication on 8q24.3-qter and a 4.4-Mb deletion on the 22q13.3-qte …
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.
Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O. Karcaaltincaba D, et al. Genet Couns. 2010;21(1):19-24. Genet Couns. 2010. PMID: 20420025
We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagn …
We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed …
Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.
Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A. Tyshchenko NA, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):128-32. doi: 10.1016/j.ejmg.2006.10.008. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17174617
We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft …
We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of dupli …