Literature DB >> 3239584

Partial trisomy 9--further delineation of the phenotype.

R D Smart1, D L Viljoen, B Fraser.   

Abstract

A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.

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Year:  1988        PMID: 3239584     DOI: 10.1002/ajmg.1320310430

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.

Authors:  Matthew Vanlandingham; Tuan V Nguyen; Omar A Abdul-Rahman; Andrew Parent; Jun Zhang
Journal:  Neurol Sci       Date:  2008-11-27       Impact factor: 3.307

2.  Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

Authors:  B R Haddad; A E Lin; H Wyandt; A Milunsky
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

3.  Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.

Authors:  Aiping Feng; Xiaohua Dai; Xiaoran Wang; Yong Gao; Ruili Luo; Yulei Li; Na Zhang; Jingyu Liu
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2011-08-07

4.  Partial trisomy 9: prenatal diagnosis and recurrence within same family.

Authors:  Jana López-Félix; Leticia Flores-Gallegos; Luz Garduño-Zarazúa; Teresa Leis-Márquez; Luz Juárez-García; Ricardo Meléndez-Hernández; Ernesto Castelazo-Morales; Dora Mayén-Molina
Journal:  Clin Case Rep       Date:  2017-05-10

5.  A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

Authors:  Yu-Chun Zhou; Cui Zhang; Jin-Sheng Zhai; Tian-Fu Li; Qiu-Yue Wu; Wei-Wei Li; Na Li; Xiao-Jun Li; Yu-Feng Huang; Ying-Xia Cui; Xin-Yi Xia
Journal:  Mol Med Rep       Date:  2015-03-05       Impact factor: 2.952

  5 in total

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