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Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
Am J Med Genet. 1994 Aug 15; 52(2):178-83.AJ

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.

Authors+Show Affiliations

Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7802005

Citation

Mewar, R, et al. "Molecular Cytogenetic Determination of a Deletion/duplication of 1q That Results in a Trisomy 18 Syndrome-like Phenotype." American Journal of Medical Genetics, vol. 52, no. 2, 1994, pp. 178-83.
Mewar R, Harrison W, Weaver DD, et al. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet. 1994;52(2):178-83.
Mewar, R., Harrison, W., Weaver, D. D., Palmer, C., Davee, M. A., & Overhauser, J. (1994). Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. American Journal of Medical Genetics, 52(2), 178-83.
Mewar R, et al. Molecular Cytogenetic Determination of a Deletion/duplication of 1q That Results in a Trisomy 18 Syndrome-like Phenotype. Am J Med Genet. 1994 Aug 15;52(2):178-83. PubMed PMID: 7802005.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. AU - Mewar,R, AU - Harrison,W, AU - Weaver,D D, AU - Palmer,C, AU - Davee,M A, AU - Overhauser,J, PY - 1994/8/15/pubmed PY - 1994/8/15/medline PY - 1994/8/15/entrez SP - 178 EP - 83 JF - American journal of medical genetics JO - Am J Med Genet VL - 52 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7802005/Molecular_cytogenetic_determination_of_a_deletion/duplication_of_1q_that_results_in_a_trisomy_18_syndrome_like_phenotype_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=52&issue=2&spage=178 DB - PRIME DP - Unbound Medicine ER -