A Girl with del(4)(q33) And Occipital Encephalocele: Clinical Description And Molecular Genetic Characterization of A Rare Patient-Reference-Cited by-同舟云学术

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A Girl with del(4)(q33) And Occipital Encephalocele: Clinical Description And Molecular Genetic Characterization of A Rare Patient

Published:2007-04 Issue:1 Volume:11 Page:4-10
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Quadrelli Roberto¹,Strehle Eugen M.²,Vaglio Alicia¹,Larrandaburu Mariela¹,Mechoso Búrix¹,Quadrelli Andrea¹,Fan Yao-Shan³,Huang Taosheng⁴

Affiliation:

1. Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay.

2. International Centre for Life, Newcastle upon Tyne, United Kingdom.

3. Cytogenetics Laboratory, Mailman Center for Child Development, Miami, Florida.

4. College of Medicine, University of California, Irvine, California.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.9995

Reference52 articles.

1. A region on human chromosome 4 (q35.1→qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis

2. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4

3. A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature

4. Specific association between alcohol intake, high grade of differentiation and 4q34-q35 deletions in hepatocellular carcinomas identified by high resolution allelotyping

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1. 4q interstitial and terminal deletion: clinical features comparison in two unrelated children;AIMS Medical Science;2023

2. Clinical comparison between terminal and interstitial 4q deletion in two unrelated children;2022-10-10

3. A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1;Journal of Pediatric Genetics;2021-11-02

4. Prenatal Diagnosis of a 20 Mb Terminal Fetal 4q-Deletion in the Cytoband q33q35.2 Inherited from the Mother;Journal of Fetal Medicine;2017-10-12

5. Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis;American Journal of Medical Genetics Part A;2015-04-06

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