A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.
Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8) (p11.2;q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8)(p11.2;q24.3) was not reported so far in Cornelia de Lange syndrome.
Egemen
A
A
Ege University Hospital, Department of Pediatrics, Bornova-Izmir, Turkey.
Ulger
Z
Z
Ozkinay
F
F
Gulen
F
F
Cogulu
O
O
D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic / Q000235:genetics