Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Aktas, Dilek; Weise, Anja; Utine, GÜLEN; ALEHAN, DURSUN; Mrasek, Kristin; von Eggeling, Ferdinand; Thieme, Heike; TUNÇBİLEK, ERGÜL; Liehr, Thomas

doi:10.1186/1755-8166-2-14

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Aktas D., Weise A., Utine E., ALEHAN D., Mrasek K., von Eggeling F., ...Daha Fazla

MOLECULAR CYTOGENETICS, cilt.2, 2009 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 2
Basım Tarihi: 2009
Doi Numarası: 10.1186/1755-8166-2-14
Dergi Adı: MOLECULAR CYTOGENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.