Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

Molecular Cytogenetics

Yiping Shen²  Shaoke Chen¹  Xuyun Hu¹  Jingsi Luo¹  Xin Fan¹  Jin Wang¹  Bobo Xie¹  Chuan Li¹  Rongyu Chen¹ 

[1] Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59, Xiangzhu Road, Nanning, China;Department of Pathology, Harvard Medical School, 300 Longwood Avenue, Boston 02115, MA, USA

关键词: Familial translocation;    SNP array;    11q23.3-qter monosomy;    11q23.3-qter trisomy;    Jacobsen syndrome;   

Others  :  1139702
DOI  :  10.1186/s13039-014-0101-8

 received in 2014-11-09, accepted in 2014-12-12,  发布年份 2014

【 摘 要 】

11qter trisomy is rare, mostly occurs in combination with partial monosomy of a terminal segment of another chromosome due to unbalanced segregation of parental translocations. Pure 11qter trisomy is rarer, only five cases have so far been reported. Here we report a family with all four siblings affected with neurodevelopmental disorders and facial dysmorphism. Chromosomal microarray analysis (CMA) identified 11q23.3-qter (15.1 Mb) deletion in one and reciprocal duplication in the other three siblings. Both father and grandfather are balanced translocation (46, XY, t (10;11) (q26;q23)) carriers. The genetic material involved on chromosome 10 is very limited (270 kb). Thus, the pedigree presented rare cases with “pure” 11qter trisomy or reciprocal 11qter monosomy (Jacobsen syndrome), offering a unique opportunity to examine clinical presentations of multiple individuals with identical genomic imbalance.

The proband with 11qter monosomy presented with many features of Jacobsen syndrome. The three 11qter trisomy carriers presented with shared craniofacial features including brachycephaly and short philtrum. They are also significant for the following neurodevelopmental and neuropsychiatric defects: intellectual disability, expressive language deficiency, autistic features, auditory hallucination, self-talking and pain insensitivity. To our knowledge, this is the smallest “pure” trisomy 11qter so far reported and this is the first report to describe the neuropsychiatric features of patients with 11qter trisomy. Our observation also revealed dissimilar features in our patients compared with those of previously published trisomy 11qter cases. The pedigree also revealed phenotypic heterogeneity among siblings with identical genomic imbalance.

【 授权许可】

   
2014 Chen et al.; licensee BioMed Central.

【 图 表 】

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