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Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion.
Clin Genet. 1993 Nov; 44(5):262-9.CG

Abstract

We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluorescence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements.

Authors+Show Affiliations

Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8313624

Citation

Wauters, J G., et al. "Application of Fluorescence in Situ Hybridization for Early Prenatal Diagnosis of Partial Trisomy 6p/monosomy 6q Due to a Familial Pericentric Inversion." Clinical Genetics, vol. 44, no. 5, 1993, pp. 262-9.
Wauters JG, Bossuyt PJ, Roelen L, et al. Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet. 1993;44(5):262-9.
Wauters, J. G., Bossuyt, P. J., Roelen, L., van Roy, B., & Dumon, J. (1993). Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clinical Genetics, 44(5), 262-9.
Wauters JG, et al. Application of Fluorescence in Situ Hybridization for Early Prenatal Diagnosis of Partial Trisomy 6p/monosomy 6q Due to a Familial Pericentric Inversion. Clin Genet. 1993;44(5):262-9. PubMed PMID: 8313624.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. AU - Wauters,J G, AU - Bossuyt,P J, AU - Roelen,L, AU - van Roy,B, AU - Dumon,J, PY - 1993/11/1/pubmed PY - 1993/11/1/medline PY - 1993/11/1/entrez SP - 262 EP - 9 JF - Clinical genetics JO - Clin Genet VL - 44 IS - 5 N2 - We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluorescence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/8313624/Application_of_fluorescence_in_situ_hybridization_for_early_prenatal_diagnosis_of_partial_trisomy_6p/monosomy_6q_due_to_a_familial_pericentric_inversion_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1993&volume=44&issue=5&spage=262 DB - PRIME DP - Unbound Medicine ER -