First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

Yalçıntepe, SİNEM; Zhuri, DRENUSHE; Sezginer Guler, Hazal; Atlı, ENGİN; Demir, SELMA; Atlı, EMİNE; Mail, Cisem; Gürkan, HAKAN

doi:10.1159/000519149

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

Yalçıntepe S., Zhuri D., Sezginer Guler H., Atlı E., Demir S., Atlı E. İ., ...Daha Fazla

Molecular Syndromology, cilt.13, sa.3, ss.235-239, 2022 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 13 Sayı: 3
Basım Tarihi: 2022
Doi Numarası: 10.1159/000519149
Dergi Adı: Molecular Syndromology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
Sayfa Sayıları: ss.235-239
Anahtar Kelimeler: Array-CGH, Congenital heart disease, Deletion 11q, Dextrocardia, Jacobsen syndrome
Trakya Üniversitesi Adresli: Evet

Özet

Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.