Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers.
We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG-banded chromosomes demonstrated that unbalanced inheritance of a parental insertion translocation caused either a partial deletion or duplication 5q in this family. The derivative chromosomes were characterized further using microdissection and FISH with band-specific probes. The clinical picture of the proband with a partial deletion of chromosome 5 was characterized by moderate psychomotor retardation, mild facial dysmorphism, cleft palate, and single transverse crease. The family members with a partial duplication of chromosome 5 were borderline intelligent, had mild facial dysmorphism, a cardiac anomaly, and a high-pitched voice. The unbalanced carriers were compared with patients reported in the literature with a duplication or deletion of chromosome region 5q22.1 --> 5q31.3.
Arens
Y H J M
YH
Research Institute Growth and Development, University of Maastricht, Maastricht, 62 MD Maastricht, The Netherlands. vvone.arens@qen.unimaas.nl
Engelen
J J M
JJ
Govaerts
L C P
LC
van Ravenswaay
C M
CM
Loneus
W H
WH
van Lent-Albrechts
J C M
JC
van der Blij-Philipsen
M
M
Hamers
A J H
AJ
Schrander-Stumpel
C T R M
CT
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic