Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies.
In three cases, banding analysis revealed a normal karyotype except for an enlarged short arm of one chromosome 13 or 15. To clarify whether this enlargement was due to a heteromorphism or to a cryptic chromosomal trisomy, so-called cenM-FISH probe sets containing a microdissection-derived probe specific for the acrocentric human p-arms were applied. The results enabled us to confirm in one case and to exclude in two cases that the enlargement on the suspect chromosome was due to a p-arm polymorphism. M-FISH and/or microdissection were used to resolve the nature of the rearrangements, i.e., partial trisomies 6 and 19.
Starke
Heike
H
Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany.
Mrasek
Kristin
K
Liehr
Thomas
T
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy; D016216:Ultrasonography, Prenatal