Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis.
A new case of trisomy 8p due to balanced t(5;8)(p15;p11)mat in a phenotypically female infant with a male karyotype is reported; postmortem examination disclosed streak gonads.
Memo
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Department of Pediatrics, Treviso Regional Hospital, Italy.
Lenzini
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Baccichetti
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D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy