Advanced paternal age effect on trisomy X syndrome
- Author:
Ahzad Hadi Ahmad
;
Author Information
1. Oncological and Radiological Sciences Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Bertam, Kepala Batas, Pulau Pinang Malaysia.
- Collective Name:Ahzad Hadi Ahmad; Rabiatul Basria S.M.N. Mydin; Nur Ain Nisrina Roan; Abdul Rahman Azhari; Narazah Mohd Yusoff
- Publication Type:Case Reports
- Keywords:
Trisomy X;
47;
XXX;
Advanced paternal age;
Cytogenetic;
Germ line mosaicism
- MeSH:
Cytogenetic
- From:Malaysian Journal of Medicine and Health Sciences
2018;14(Supplement 1):213-215
- CountryMalaysia
- Language:English
-
Abstract:
Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syndrome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifestations. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.
- Full text:11.2018my0338.pdf
