Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.
Semerci
C Nur
CN
Department of Medical Biology and Genetics, School of Medicine, Pamukkale University, Kinikli/Denizli 20020, Turkey. nsemerci@pamukkale.edu.tr <nsemerci@pamukkale.edu.tr>
Bahce
Muhterem
M
Atik
Fatih
F
Candemir
Zuhal
Z
Kiraz
Isil Kucun
IK
Zorlu
Pelin
P
Gül
Davut
D
D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics* / Q000473:pathology