Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion

J G Wauters; P J Bossuyt; L Roelen; B van Roy; J Dumon

doi:10.1111/j.1399-0004.1993.tb03894.x

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. doi: 10.1111/j.1399-0004.1993.tb03894.x.

Authors

J G Wauters¹, P J Bossuyt, L Roelen, B van Roy, J Dumon

Affiliation

¹ Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.

PMID: 8313624
DOI: 10.1111/j.1399-0004.1993.tb03894.x

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.

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics
Abortion, Therapeutic
Chromosome Aberrations / diagnosis
Chromosome Aberrations / genetics
Chromosome Disorders
Chromosome Inversion*
Chromosomes, Human, Pair 6*
Facial Bones / abnormalities
Female
Fetal Diseases / diagnosis
Fetal Diseases / genetics
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Intellectual Disability / genetics
Kidney / abnormalities
Male
Monosomy*
Mosaicism
Pedigree
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
Pregnancy in Diabetics
Prenatal Diagnosis*
Skull / abnormalities
Trisomy*