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.
Cytogenetic

A 31-year-old lady with normal physical characteristics was found to have persistent high FSH and LH and was suspected possible premature ovarian failure after reported to have not normal menstrual cycle. Leucocytes were collected from patient’s fresh peripheral blood sample and Giemsa banding (G-banding) was done. All metaphases were captured and analysed using Cytovision software 4.5 and the final analysis show 47,XXX
Premature Ovarian Failure

Introduction: Good knowledge and perception regarding iron supplementation are crucial to ensure adherence to iron therapy. This study aims to develop and validate a questionnaire on the knowledge and perception among pregnant women about oral iron consumption. Method: A self-administrated questionnaire was developed in Malay language through extensive literature search and a face and content validation process. The questionnaire validation involved two parts; Validation Study 1 included item response theory (IRT) and exploratory factor analysis (EFA) for the knowledge and perception items, respectively. Validation Study 2 comprised a repeat IRT analysis for the knowledge items and confirmatory factor analysis (CFA) for the perception items. Results: For the knowledge section, the initial 22 items in Validation Study 1 were reduced to 19 items after the repeat IRT analysis. The remaining 19 items had difficulty and discrimination parameters close to or within the acceptable values. For the perception section, the original 16 items were reduced to 14 in the EFA as two items had a factor loading ≤0.3. The CFA model showed poor fit of items (chi-square p-value <0.05; CFIrobust=0.73; TLIrobust=0.68; RMSEArobust=0.20; and SRMR=0.12). The Cronbach’s alpha for both sections were >0.7, and the intra-class correlation coefficient value in the knowledge and perception sections were 0.74 and 0.87, respectively. Conclusion: The results illustrate good psychometric properties for the knowledge items. However, further confirmatory validation is needed for the perception items. This questionnaire can be a valid and reliable assessment tool for assessing the knowledge of pregnant women regarding oral iron consumption.