Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome

Ching Fen Chang, Ling Hui Li, Chung Hsing Wang, Fuu Jen Tsai, Tsai Chuan Chen, Jer Yuarn Wu, Yuan Tsong Chen, Anne Chun Hui Tsai

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9-year-old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck, and a normal karyotype. Using high-density oligonucleotide array chip (Affymetrix 6.0) to perform parental and proband samples concurrently on three chips and interpreted as a trio set, a de novo 3.2Mb deletion from bands q12.2 to q13 on chromosome 16 (from 52.08 to 55.3Mb) of paternal origin was identified. The deletion was confirmed by quantitative genomic PCR and the break points were defined by junction PCR. Our study demonstrated the power of high-density oligonucleotide array chip in identifying novel submicroscopic deletions that were not detectable using G-banding cytogenetic technology. Furthermore, our result narrowed down the critical region for craniofacial features in interstitial 16q11.2-q13 deletion syndrome. In patients who have high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck and short stature, high-density array should be included in initial work up.

Original languageEnglish (US)
Pages (from-to)2365-2371
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number9
DOIs
StatePublished - Sep 1 2010

Keywords

  • Chromosome deletion 16q12.2-13 deletion
  • Craniofacial anomalies
  • Psychomotor retardation
  • Short stature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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