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Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization.
Prenat Diagn. 1997 Sep; 17(9):871-3.PD

Abstract

We report the prenatal exclusion of partial trisomy in a family with maternal pericentric inversion of chromosome 21 by fluorescence in situ hybridization (FISH). After determining the structural rearrangement in the mother and her affected son with 46,XY,rec(21)dup(21q)inv(21)(p11q22) resulting in Down syndrome (DS), a chorionic villus sample from the current pregnancy was analysed for the copy number of the DS critical region with a cosmid contig. The signal distribution was normal and the cytogenetic analysis revealed that the fetus had inherited the inverted chromosome 21 in a balanced form. FISH probes specific for the DS region are of great value in supporting cytogenetic results, regardless of the structural status of chromosome 21.

Authors+Show Affiliations

Department of Obstetrics and Gynaecology, Haynal Imre Medical University, Budapest, Hungary.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9316133

Citation

Tardy, E P., et al. "Prenatal Exclusion of Segmental Trisomy in Familial Chromosome 21 Pericentric Inversion By Fluorescence in Situ Hybridization." Prenatal Diagnosis, vol. 17, no. 9, 1997, pp. 871-3.
Tardy EP, Tóth A, Kosztolányi G. Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization. Prenat Diagn. 1997;17(9):871-3.
Tardy, E. P., Tóth, A., & Kosztolányi, G. (1997). Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization. Prenatal Diagnosis, 17(9), 871-3.
Tardy EP, Tóth A, Kosztolányi G. Prenatal Exclusion of Segmental Trisomy in Familial Chromosome 21 Pericentric Inversion By Fluorescence in Situ Hybridization. Prenat Diagn. 1997;17(9):871-3. PubMed PMID: 9316133.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization. AU - Tardy,E P, AU - Tóth,A, AU - Kosztolányi,G, PY - 1997/10/8/pubmed PY - 2000/6/20/medline PY - 1997/10/8/entrez SP - 871 EP - 3 JF - Prenatal diagnosis JO - Prenat Diagn VL - 17 IS - 9 N2 - We report the prenatal exclusion of partial trisomy in a family with maternal pericentric inversion of chromosome 21 by fluorescence in situ hybridization (FISH). After determining the structural rearrangement in the mother and her affected son with 46,XY,rec(21)dup(21q)inv(21)(p11q22) resulting in Down syndrome (DS), a chorionic villus sample from the current pregnancy was analysed for the copy number of the DS critical region with a cosmid contig. The signal distribution was normal and the cytogenetic analysis revealed that the fetus had inherited the inverted chromosome 21 in a balanced form. FISH probes specific for the DS region are of great value in supporting cytogenetic results, regardless of the structural status of chromosome 21. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/9316133/Prenatal_exclusion_of_segmental_trisomy_in_familial_chromosome_21_pericentric_inversion_by_fluorescence_in_situ_hybridization_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1997&volume=17&issue=9&spage=871 DB - PRIME DP - Unbound Medicine ER -