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      Array-CGH study of partial trisomy 9p without mental retardation.

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          Abstract

          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 2.67 Mb, 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.

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          Author and article information

          Journal
          Am. J. Med. Genet. A
          American journal of medical genetics. Part A
          Wiley
          1552-4833
          1552-4825
          Jul 2011
          : 155A
          : 7
          Affiliations
          [1 ] Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia. inessebenabdallah@yahoo.fr
          Article
          10.1002/ajmg.a.34044
          21626676
          6a259e7e-d746-4f94-a4e3-d43aa30a2826
          History

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