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

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 dev...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Aktas, Dilek, Weise, Anja, Utine, Eda, Alehan, Dursun, Mrasek, Kristin, von Eggeling, Ferdinand, Thieme, Heike, Tuncbilek, Ergul, Liehr, Thomas
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2009
נושאים:
Case Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2715415/
https://ncbi.nlm.nih.gov/pubmed/19566937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-14
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים