Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features

Kwei Shuai Hwang, Margaret A. Pearson, Pawel Stankiewicz, P. Alan Lennon, M. Lance Cooper, Jessica Wu, Zhishuo Ou, Wei Wen Cai, Ankita Patel, Sau Wai Cheung

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Molecular cytogenetics allows the identification of cryptic chromosome rearrangements, which is clinically useful in mentally retarded and/or dysmorphic individuals with normal results from conventional cytogenetics analysis. We report on a 3-year-old girl with mental retardation, growth deficiency, speech delay, and dysmorphic features including hypertelorism, upslanting palpebral fissures, midfacial hypoplasia, and posteriorly rotated ears. The G-banding analysis showed a 46,XX,t(3;8)(q26.2;p21.1) mat karyotype. However, her clinical features were suggestive of the 18q syndrome. Subtelomeric FISH analysis revealed a der(18) translocated material from chromosome 17. Array-based comparative genomic hybridization (array-CGH) with subtelomeric BAC and PAC clones confirmed the abnormality and refined the breakpoints to 18q22.3-qter and 17p13.2-pter (deletion of 8.5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities.

Original languageEnglish
Pages (from-to)88-93
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume137 A
Issue number1
DOIs
StatePublished - 15 Aug 2005
Externally publishedYes

Keywords

  • 17pter duplication
  • 18q deletion syndrome
  • Array-based comparative genomic hybridization (array-CGH)
  • Mental retardation
  • Subtelomeric fluorescence in situ hybridization (FISH)

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