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Karyotyping01:17

Karyotyping

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Articles linked to this work by shared authors, journal, and citation graph.

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Related Experiment Video

Updated: May 25, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

[Detection of 9p partial trisomy using array-based comparative genomic hybridization].

Xiao-yan Zhou1, Ping Hu, Yin-qiu Yang

  • 1Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P. R. China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|February 8, 2012
PubMed
Summary

Trisomy 9p13.1-p24.3, a chromosomal aberration, may cause congenital malformations in a child with developmental delays. Array-comparative genomic hybridization (array-CGH) proved effective for genetic diagnosis.

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Last Updated: May 25, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Developmental Biology

Context:

  • Developmental delay and speech disorders can stem from complex genetic factors.
  • Identifying chromosomal aberrations is crucial for diagnosing congenital malformations.
  • Family-based genetic analysis aids in understanding inheritance patterns.

Purpose:

  • To identify chromosomal aberrations in a child with developmental delay and speech/language disorders.
  • To investigate the genetic causes of congenital malformation.
  • To assess the utility of array-comparative genomic hybridization (array-CGH) in molecular genetic diagnosis.

Summary:

  • G-banding revealed inv(9)(p13q13) in the affected child and mother, with the child also having a chromosome 13 derivative fragment.
  • Array-comparative genomic hybridization (array-CGH) pinpointed the derivative fragment's origin to 9p (breakpoints 9p13.1-p24.3).
  • Trisomy 9p13.1-p24.3 is proposed as the cause of the child's congenital malformation.

Impact:

  • Array-CGH offers high resolution and accuracy for genetic analysis.
  • This study highlights the importance of advanced cytogenetic techniques in diagnosing complex genetic disorders.
  • Findings contribute to understanding the genetic basis of developmental and speech disorders.