Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH

S. Yu, Deborah S Barbouth, P. J. Benke, P. E. Warburton, Yao-Shan Fan

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay. Her dysmorphism included prominent forehead, hypertelorism, down-slanting palpebral fissures, low-set/large ears, and flat nasal bridge with anteverted nares. This case also presented hypotonia, hypermobility of joints, congenital heart defect, umbilical hernia, failure to thrive, and seizures. The SMC originated from the distal region of Xp as identified by FISH with multiple DNA probes. Staining with antibodies to Centromere Protein C (CENP-C) demonstrated a neocentromere, while FISH with an α-satellite DNA probe showed no hybridization to the SMC. A karyotype was described as 47,XX,+neo(X)(pter→p22.31::p22.31→pter), indicating a partial tetrasomy of Xp22.31→pter. This karyotype represents a functional trisomy for Xp22.31→pter and a functional tetrasomy for the pseudoautosomal region given that there is no X-inactivation center in the marker chromosome. The SMC was further characterized by microarray-based comparative genomic hybridization (array CGH) as a duplicated DNA fragment of approximately 13 megabase pairs containing about 100 genes. We have described here a new neocentromere with discussion of its clinical significance.

Original languageEnglish
Pages (from-to)141-145
Number of pages5
JournalCytogenetic and Genome Research
Volume116
Issue number1-2
DOIs
StatePublished - Jan 1 2007

Fingerprint

Protein Array Analysis
Genetic Markers
Staining and Labeling
Tetrasomy
DNA Probes
Karyotype
Hypertelorism
Satellite DNA
Joint Instability
Umbilical Hernia
X Chromosome Inactivation
Failure to Thrive
Muscle Hypotonia
Comparative Genomic Hybridization
Forehead
Congenital Heart Defects
Trisomy
Eyelids
Nose
Ear

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH. / Yu, S.; Barbouth, Deborah S; Benke, P. J.; Warburton, P. E.; Fan, Yao-Shan.

In: Cytogenetic and Genome Research, Vol. 116, No. 1-2, 01.01.2007, p. 141-145.

Research output: Contribution to journalArticle

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