Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
Trisomy 13 Syndrome ; Genetic Counseling

Background: Leukemia is a leading cause of morbidity and mortality among pediatric patients in the Philippines, but it also significantly affects family dynamics and behaviors. Aside from the parents, siblings are also vulnerable to the effects of a chronic disease within the family but are not usually the topic of family studies. Objective: To determine if having control-oriented or escape-oriented coping mechanisms is associated with the different levels and dimensions of family functioning among children ages 13 to 18 years old who have siblings diagnosed with leukemia. Methodology: This case control study was conducted in two Kythe-affiliated hospitals in Luzon, Philippines. Using McMaster Family Assessment Device, adolescent siblings of leukemia patients who belong to dysfunctional families (n=8) were considered as the cases, while siblings who belong to functional families (n=5) were the controls. KidCOPE was used to identify coping mechanisms. Odds ratio for escape- and control-oriented coping mechanisms were computed using Fisher’s exact test through MedCalc, while association of coping mechanisms with demographics was determined using Chi square test through SAS 9.4. Results: Siblings of leukemia patients who belong to dysfunctional families are more likely to use escape-oriented coping mechanism (OR = 2.2; 95% CI = 0.0746 to 64.9082; p = 0.648) but also more likely to feel that it is not helpful to them (OR = 0.6471; 95% CI = 0.0111 to 37.6665; p = 0.8337). However, an association between coping mechanisms and family functionality cannot be established because the computed odds ratios are not significant. A significant association was found between the number of extended family members living with the sibling and efficiency of control-oriented coping mechanisms (p = 0.024). Conclusion Association between coping mechanisms of adolescent siblings of leukemia patients and family functionality was not established, but further studies with larger sample sizes are needed to confirm this.
Siblings ; Leukemia ; Philippines