Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy-Reference-Cited by-同舟云学术

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Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy

Published:2010-10 Issue:5 Volume:14 Page:695-701
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Lenzini Elisabetta¹,Drigo Paola²,Redaelli Serena³,Mammi Isabella⁴,Rosa-Rizzotto Melissa²,Dalprà Leda³

Affiliation:

1. Molecular Cytogenetics Laboratory, Pediatrics Department, University of Padua, Padova, Italy.

2. Pediatrics Department, University of Padua, Padova, Italy.

3. Dipartimento di Neuroscienze e Tecnologie Biomediche, Università degli Studi di Milano-Bicocca, Monza, Italy.

4. Medical Genetics Service, Dolo Hospital, Dolo (Venice), Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0079

Reference20 articles.

1. Subtelomere deletions and translocations are frequently familial

2. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies

3. Subtelomeric imbalances in phenotypically normal individuals

4. First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH

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1. Elongated Conus Medullaris, Sacral Agenesis, and Scoliosis: A Case Report of a Patient with Trisomy 19q and Monosomy 7q;World Neurosurgery;2019-04

2. Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta;American Journal of Medical Genetics Part A;2015-10-15

3. 19q13.33→qter trisomy in a girl with intellectual impairment and seizures;Meta Gene;2014-12

4. De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly;American Journal of Medical Genetics Part A;2013-02-07

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