Prenatal Diagnosis of De Novo Reciprocal Translocation t(1;12)(q21.3;p11.2) with Trisomy 21 and Sperm FISH Analysis for Increased Aneuploidy Risk

Karkucak, Mutlu; ÖZEMRİ SAĞ, ŞEBNEM; Yakut, Tahsin; Kimya, Yalcin

doi:10.1080/09723757.2010.11886110

Prenatal Diagnosis of De Novo Reciprocal Translocation t(1;12)(q21.3;p11.2) with Trisomy 21 and Sperm FISH Analysis for Increased Aneuploidy Risk

Atıf İçin Kopyala

Karkucak M., ÖZEMRİ SAĞ Ş., Yakut T., Kimya Y.

INTERNATIONAL JOURNAL OF HUMAN GENETICS, cilt.10, sa.4, ss.231-234, 2010 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 10 Sayı: 4
Basım Tarihi: 2010
Doi Numarası: 10.1080/09723757.2010.11886110
Dergi Adı: INTERNATIONAL JOURNAL OF HUMAN GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.231-234
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Complex rearrangements such as de novo translocations together with aneuploidy are unusual situations in prenatal diagnosis. We report a case with de novo translocation t(1;12)(q21.3;p11.2) and trisomy 21. Father's sperm was analyzed for potential of increased risk of aneuploidy. Results showed no paternal increased risk for chromosomes 13, 18, 21, X, Y. Based on our results, we suggest that possible increased maternal aneuploidy risk add other possible mechanisms should be investigated to better understand cell division errors and to give better genetic counseling.