title: Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
abstract: BACKGROUND
  2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated with the deleted size or affected genes at chromosome 2q37. However, it remains elusive whether 2q37 deletion per se or other genetic factors, such as copy number variations (CNVs), may confer the risk for the tumorigenic condition.
  
  
  METHODS
  We report a two-year-old Japanese boy with 2q37 deletion syndrome who exhibited the typical facial appearance, coarctation of the aorta, and a global developmental delay, while lacking the symptoms of brachydactyly and obesity. He developed a sex cord-stromal tumor of the right testis at three months of age. The array comparative genome hybridization analysis identified an 8.2-Mb deletion at 2q37.1 (chr2:234,275,216-242,674,807) and it further revealed two additional CNVs: duplications at 1p36.33-p36.32 (chr1:834,101-2,567,832) and 20p12.3 (chr20:5,425,762-5,593,096). The quantitative PCRs confirmed the heterozygous deletion of HDAC4 at 2q37.3 and duplications of DVL1 at 1q36 and GPCPD1 at 20p12.3.
  
  
  CONCLUSIONS
  This study describes the unique phenotypes in a boy with 2q37 deletion and additional CNVs at 1p36.33-p36.32 and 20p12.3. The data provide evidence that the phenotypic variations and unusual complications of 2q37 deletion syndrome are not simply explained by the deleted size or genes located at 2q37, but that external CNVs may account at least in part for their variant phenotypes. Accumulating the CNV data for chromosomal disorders will be beneficial for understanding the genetic effects of concurrent CNVs on the syndromic phenotypes and rare complications.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan. ysakai22q13@gmail.com.
authors.forename: Yasunari
authors.initials: Y
authors.lastname: Sakai
authors.forename: Ryota
authors.initials: R
authors.lastname: Souzaki
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Yuki
authors.initials: Y
authors.lastname: Matsushita
authors.forename: Hazumu
authors.initials: H
authors.lastname: Nagata
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Ishizaki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Torisu
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Oda
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Taguchi
authors.forename: Chad A
authors.initials: CA
authors.lastname: Shaw
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018312:Sex Cord-Gonadal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D013736:Testicular Neoplasms / Q000235:genetics* / Q000473:pathology
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