[Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):823-6. doi: 10.3760/cma.j.issn.1003-9406.2015.06.015.
[Article in Chinese]

Abstract

Objective: To determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.

Methods: The karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.

Results: There were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.

Conclusion: The de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Comparative Genomic Hybridization / methods
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Microsatellite Repeats / genetics
  • Phenotype
  • Syndrome