Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome.
Tüysüz
B
B
Department of Pediatrics, Cerrahpaşa Faculty of Medicine, University of Istanbul, Turkey.
Hacihanefioglu
S
S
Silahtaroglu
A
A
Yilmaz
S
S
Deviren
A
A
Cenani
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D020223:Chromosome Painting; D002879:Chromosomes, Human, Pair 10; D002890:Chromosomes, Human, Pair 20; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy