Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the ‘trisomy 1q42→qter syndrome’
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics,Molecular Biology
Reference12 articles.
1. Duplication Dup(1)(q32q44) Detected by Comparative Genomic Hybridization (CGH): Further Delineation of Trisomies 1q
2. Chromosome imbalance, normal phenotype, and imprinting.
3. Trisomy (1q) (q42→qter): confirmation of a syndrome
4. Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter
5. ISCN 2005: An International System for Human Cytogenetic Nomenclature, Shaffer LG, Tommerup N (eds) (S. Karger, Basel 2005).
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2. Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report;Neonatal Medicine;2022-05-31
3. Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability;Molecular Cytogenetics;2019-04-17
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