Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Multivitamin intake does not affect the risk of preterm and very preterm birth

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Multivitamin use and risk of preeclampsia in a high-income population: A cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Alcohol intake in early pregnancy and spontaneous preterm birth: a cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  • F P Cremers
  • T J van de Pol
  • B Wieringa
  • M H Hofker
  • P L Pearson
  • R A Pfeiffer
  • M Mikkelsen
  • A Tabor
  • H H Ropers
View graph of relations

While performing a systematic search for chromosomal microdeletions in patients with clinically complex X-linked syndromes, we have observed that large male-viable deletions and duplications are clustered in heterochromatic regions of the X chromosome. Apart from the Xp21 band, where numerous deletions have been found that encompass the Duchenne muscular dystrophy gene, an increasing number of deletions and duplications have been observed that span (part of) the Xq21 segment. To refine the molecular and genetic map of this region, we have employed 52 cloned single-copy DNA sequences from the Xcen-q22 segment to characterize two partly overlapping tandem duplications and two interstitial deletions on the proximal long arm of the human X chromosome. Together with a panel of somatic cell hybrids that had been described earlier, these four rearrangements enabled us to order the 52 probes into nine different groups and to narrow the regional assignment of several genes, including those for tapetochoroidal dystrophy and anhidrotic ectodermal dysplasia.

Original languageEnglish
JournalAmerican Journal of Human Genetics
Volume43
Issue number4
Pages (from-to)452-61
Number of pages10
ISSN0002-9297
Publication statusPublished - Oct 1988

    Research areas

  • Chromosome Banding, Chromosome Deletion, DNA/genetics, Female, Genetic Linkage, Genetic Markers, Heterochromatin, Karyotyping, Male, X Chromosome

ID: 54944261