Format

Send to

Choose Destination
See comment in PubMed Commons below
Ann Genet. 2004 Oct-Dec;47(4):393-8.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Author information

1
Department of Medical Biology and Genetics, School of Medicine, Pamukkale University, Kinikli/Denizli 20020, Turkey. nsemerci@pamukkale.edu.tr <nsemerci@pamukkale.edu.tr>

Abstract

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.

PMID:
15581838
DOI:
10.1016/j.anngen.2004.03.009
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center