Brief report adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation-Reference-Cited by-同舟云学术

Brief report adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation

Published:2014-03-26 Issue:4 Volume:100 Page:294-299
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research

Author:

Deng Linbei¹,Peng Ying¹,Liu Jing¹,Wen Juan¹,Xia Yan²,Liang Desheng¹²,Wu Lingqian¹²

Affiliation:

1. State Key Laboratory of Medical GeneticsCentral South UniversityChangsha Hunan P.R. China

2. Hunan Jiahui Genetics HospitalChangsha China

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdra.23215

Reference34 articles.

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2. Duplication 9q34 syndrome;Allderdice PW;Am J Hum Genet,1983

3. Partial trisomy 9q: comparison of the syndrome in 2 sisters;Bianchi GP;Minerva Pediatr,1986

4. Partial 9q trisomy associated with a 9,21 translocation

5. PTCH1 duplication in a family with microcephaly and mild developmental delay

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1. Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic 46,XX,dup(9)(q22.3q34.1)/46,XX at amniocentesis in a pregnancy with a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2022-03

2. Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter>14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features;Intractable & Rare Diseases Research;2019-02-28

3. A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33;Gene;2016-12

4. SNPs Array Karyotyping in Non-Hodgkin Lymphoma;Microarrays;2015-11-12