Related Experiment Video
Updated: Oct 23, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
Published on: December 18, 2019
Campomelic syndrome and deletion of SOX9
P N Olney1, L S Kean, D Graham
1Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
Abstract:
The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a transcription factor involved in chondrogenesis and testis development. Mutations in this gene cause campomelic syndrome (CMPS) with autosomal sex reversal. Here we describe an infant girl with CMPS and an interstitial deletion on the long arm of chromosome 17 (46,X,del(17)(q23.3q24.3). The extent of SOX9 deletion on one chromosome 17 was defined using unique sequence fluorescent in situ hybridization probes. This is the first report of a patient with CMPS bearing a complete deletion of one SOX9 gene, and as such is the strongest evidence to date for dose-dependent action of the SOX9 protein in normal chondrogenesis.
Related Concept Videos
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Inheritance of Chromatin Structures
Cohesins
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
X-Inactivation
X-inactivation
