Array-based analysis reveals partial 11q14 duplication in a familial case with intellectual disability, short stature and mild dysmorphic features. R. Satomi1, M. Ohta1, K. Matsumoto1, T. Miyashita1, M. Hayata1, H. Shiraku1, N. Matsuda1, K. Kurosawa2, K. Enomoto1 1) Department of Pediatrics, JA Toride medical center, Toride, Ibaraki, Japan; 2) Division of Medical Genetics, Kanagawa Childrens Medical Center, Yokohama, Japan.

   Partial chromosomal duplications of 11q without additional imbalances are rare. A total of seven cases associated with 11q14 duplication without any other chromosomal involvement have been reported. The phenotypes in these previous cases were characterized by a wide variety of clinical findings and variable intellectual disability or psychomotor delay with facial dysmorphic features. This may be due in part to varying size of the duplicated segments. Herein, we report a new case with a 9.6Mb duplication involving 11q14.1 to q14.3 defined by array-based comparative genomic hybridization analysis: arr 11q14.1q14.3(79,131,430-88,758,610)x3 (hg19). The patient is a 9-year-old boy who exhibits developmental delay, intellectual disability, minor dysmorphic features, and short stature. He was born at 32-week gestation. His birth weight and length are 1854g (25-50th percentile) and 45cm (75-90th percentile), respectively. He was healthy and uncomplicated in infancy. Initial visit to our hospital was at age 9, complaining short stature. His height was 119.5cm (below -2.5SD). Physical examinations found that he also had mildly upslanting palpebral fissures and cryptorchidism. Subsequent examinations reveal that his intelligence quotient is 50 and ADHD Rating Scale based on DSM IV criteria is 26. His brother also has intellectual disability, learning disorder, and short stature. Furthermore, we have discovered that he has some relatives presenting similar features on his mothers side. Though, this family history strongly shows as if they have the X-linked recessive inheritance, the copy-number change is even in the autosome. Our observations delineate the phenotypic spectrum associated with a clearly defined duplication of chromosome 11q14. Phenotype-genotype correlation will be discussed in view of all the reported cases and our cases family members.

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