[Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):52-5. doi: 10.3760/cma.j.issn.1003-9406.2014.01.012.
[Article in Chinese]

Abstract

Objective: To analyze a child with developmental delay, severe mental retardation, speech delay and muscular hypotonia.

Methods: The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH).

Results: No karyotypic abnormality was detected at cytogenetic level. However, array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child, which has a size of 12.1 Mb.

Conclusion: The de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child. Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 4*
  • Comparative Genomic Hybridization / methods
  • Female
  • Gene Deletion*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Sequence Deletion*