First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Karger
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
Jacobsen Syndrome, Dextrocardia, Array-CGH, Congenital Heart Disease, Deletion 11q, Interstitial 11q24 Deletion, Paris-Trousseau-Syndrome, Platelets, Defect, Child, Gene
Kaynak
Molecular Syndromology
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
13
Sayı
3
