Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference20 articles.
1. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype–phenotype correlation;Abu-Amero;BMC Med. Genet.,2010
2. Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl;Al Achkar;Mol. Cytogenet.,2010
3. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria;Bailey;J. Clin. Invest.,2011
4. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA;Barbaro;Eur. J. Hum. Genet.,2009
5. 20 Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb;Bonaglia;Am. J. Med. Genet.,2002
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1. Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome;European Journal of Human Genetics;2024-07-07
2. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review;Genes;2023-01-05
3. From karyotypes to precision genomics in 9p deletion and duplication syndromes;Human Genetics and Genomics Advances;2022-01
4. Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly;Molecular Genetics & Genomic Medicine;2021-10-05
5. CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations;Frontiers in Psychiatry;2021-01-12
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