P09.04: Prenatal diagnosis of Pai syndrome

Abstract

Poster abstracts the corpus callosum. Genetic amniocentesis was performed. All cells from two independent cultures showed an abnormal female karyotype with an inverted duplication of the short arm of chromosome 5 involving region 5p;13 to 5p;15.2. Parental karyotypes were normal, indicating a de novo chromosomal rearrangement. Following induction of labor at 39 weeks gestation a live female infant was delivered, birthweight 3310 g. The infant had generalized hypotonia, micrognathia, epicanthic folds, bilateral talipes, dysplastic ears and abnormal rolling eye movements. She was intermittently apneic. Active management was declined by the parents in view of the known chromosomal abnormality. The infant was discharged home and died on Day 24 of life. Trisomy of the short arm of chromosome 5 is very uncommon and to our knowledge this is the first reported case of an antenatal diagnosis of this condition. Various phenotypes have been described and depend on the region of the chromosome involved in the duplication. The critical region appears to be region 13. Infants with duplication of this region display a characteristic phenotype with generalized hypotonia, facial dysmorphism and developmental delay. Prognosis for these individuals is very poor. The antenatal diagnosis of trisomy 5p involving duplication of region 13 in this case enabled informed decision-making regarding the intrapartum and neonatal management of this infant.

Pai syndrome: first reported case in Qatar and review of literature of previously published cases

“…Since then, 18 cases have been reported by Pai et al (1987),1 Preece et al (1988),2 Morgan and Evans (1990),3 Rudnikschoneborn and Zerres (1994),4 Mishima et al (1999),5 Al-Mazrou et al (2001),6 Coban et al (2003),7 Szeto et al (2005),8 Guion-Almeida et al (2007)9 and Castori et al (2007),10 Vaccarella et al (2008),11 Chousta et al (2008)12 and Ochoa et al (2010) 13. To our knowledge, this is the first case of PS to be reported in Qatar and the second case in a patient of Arabian descent.…”