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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Array-CGH study of partial trisomy 9p without mental retardation
American Journal of Medical Genetics, Part A, Volume 155, No. 7, Year 2011
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Description
Partial trisomy 9p is one of the most common detected autosomal structural anomalies, so the phenotype-genotype correlation of this rearrangement has been well described. Despite variation in size of the 9p duplications, trisomy 9p syndrome is characterized by typical dysmorphic features and a variable but constant psychomotor and mental retardation. Previously reported phenotype genotype correlation studies proposed that the critical region for phenotype is located in 9p22. We report here on a new patient with partial trisomy 9p13.3→9pter in an 8-year-old boy with typical trisomy 9p dysmorphic features but a normal mental development. Cytogenetics investigations showed that our patient karyotype was 47,XY,+ der(22)t(9;22)(p13.q11) inherited by a 3:1 disjunction of a maternal reciprocal translocation t(9;22)(p13.q11). FISH and array CGH analysis were used to better characterize duplicated chromosomal regions and showed a large duplication of chromosome 9p13.3→9pter associated to microduplication in 22q11.1. The size of the duplications in chromosomes 9p and 22q were estimated about 33.9 and 2.67Mb, respectively. The comparison between this case and those reported in the literature allows us to support that all syndromes show variability and that not all partial trisomies 9p are associated with intellectual disability. © 2011 Wiley-Liss, Inc.
Authors & Co-Authors
Abdallah-Bouhjar, Inesse B.
Tunisia, Sousse
Hopital Farhat Hached Sousse
Hannachi, Hanene
Tunisia, Sousse
Hopital Farhat Hached Sousse
Mougou, S.
Tunisia, Sousse
Hopital Farhat Hached Sousse
Labalme, Audrey
France, Lyon
Chu de Lyon
Gmidène, Abir
Tunisia, Sousse
Hopital Farhat Hached Sousse
Soyah, Najla
Tunisia, Sousse
Hopital Farhat Hached Sousse
Missaoui, Sonia
Tunisia, Monastir
Chu Fattouma-bourguiba
Sanlaville, Damien
France, Lyon
Chu de Lyon
Elghèzal, Hatem M.
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Sousse
Faculty of Medicine Sousse
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Sousse
Faculty of Medicine Sousse
Statistics
Citations: 14
Authors: 10
Affiliations: 4
Identifiers
Doi:
10.1002/ajmg.a.34044
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Disability
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Participants Gender
Male