A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH-Reference-Cited by-同舟云学术

A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH

Published:2018-05-29 Issue:7 Volume:6 Page:1313-1316
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Bhola Shama L.¹^ORCID,Nieuwint Aggie W. M.¹,Stuurman Kyra E.²

Affiliation:

1. Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

2. Department of Clinical Genetics; Erasmus Medical Center; Rotterdam The Netherlands

Publisher

Wiley

Subject

General Medicine

Reference10 articles.

1. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience;Cirigliano;Prenat. Diagn.,2009

2. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies;Korbel;Proc. Natl. Acad. Sci. U S A.,2009

3. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21;Lyle;Eur. J. Hum. Genet.,2009

4. Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein;Egeo;Hum. Genet.,1998

5. DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system;Yamakawa;Hum. Mol. Genet.,1998

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