Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

R. Mewar, W. Harrison, David Weaver, C. Palmer, M. A. Davee, J. Overhauser

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues appeared normal. However, a small piece of chromosomal material of unknown origin was detected at the tip of the long arm of chromosome 1. Fluorescence in situ hybridization (FISH) using whole chromosome 18 painting probes disclosed no additional hybridization at the telomere of 1q, suggesting that the material was derived from another chromosome. Further chromosome painting experiments suggested that the telomeric addition was of chromosome 1 origin. To identify subchromosomal regions involved in the rearrangement, additional FISH analyses were performed using single copy and repetitive DNA probes mapping to different portions of chromosome 1. The analyses showed that probes mapping to 1q34-43 were duplicated in the derivative chromosome 1. In addition, a DNA probe mapping to 1q44 was found to be deleted from the derivative chromosome 1. Our composite analysis suggests that a deletion and a duplication of chromosome 1q can result in some of the clinical findings usually associated with trisomy 18 syndrome. These results demonstrate the usefulness of FISH analysis when karyotype analysis is not consistent with the clinical description.

Original languageEnglish (US)
Pages (from-to)178-183
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume52
Issue number2
StatePublished - 1994
Externally publishedYes

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Chromosomes, Human, Pair 1
Cytogenetics
Chromosomes, Human, Pair 18
Phenotype
Fluorescence In Situ Hybridization
Chromosome Painting
DNA Probes
Chromosomes
Chromosome Duplication
Congenital Heart Defects
Telomere
Low Birth Weight Infant
Karyotype
Fingers
Trisomy 18-Like Syndrome
Parturition
Trisomy 18

Keywords

  • chromosomal deletion
  • chromosomal duplication
  • chromosome 1
  • fluorescence in situ hybridization
  • pseudotrisomy 18
  • trisomy 18

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. / Mewar, R.; Harrison, W.; Weaver, David; Palmer, C.; Davee, M. A.; Overhauser, J.

In: American Journal of Medical Genetics, Vol. 52, No. 2, 1994, p. 178-183.

Research output: Contribution to journalArticle

Mewar, R. ; Harrison, W. ; Weaver, David ; Palmer, C. ; Davee, M. A. ; Overhauser, J. / Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. In: American Journal of Medical Genetics. 1994 ; Vol. 52, No. 2. pp. 178-183.
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