Implementing Advances in Pediatric for

Better Child Health

Pre-KONIKA : 6 - 7 Agustus 2017 :: KONIKA : 8 - 11 Agustus 2017

UKK: Growth and Development – Social Pediatric

Category: Oral Presentation
Code: O - GND - 003

Cytogenetic and clinical features of down syndrome in

Malang, East Java
Rusdian Niati Ningsih, Eka Sari Supraptiningsih, Ariani(1)

Department of Child Health Medical School, Universitas Brawijaya/Saiful Anwar General Hospital, Malang ,
Indonesia (1)

Background: Down syndrome (DS) is the most common chromosomal disorder, causing intellectual
disability with 1 per 600 to 1 per 800 live births . Cytogenetic diagnosis is important for the diagnosis
confirmation and recurrence risk determination.

Objective: This study was designed to evaluate the karyotype pattern, clinical features and risk factors of
patients with Down syndrome in Malang, East Java

Method: Data was obtained from a retrospective analysis of questionnaire from DS patients. A total of 34
patients were studied with 67,6% males. The following information was recorded: cytogenetic evaluation
results ; gender; maternal age; and clinical features.

Result: There were 25 children (73,5 %) with no cytogenetic test, 4 children (11,7 %) with lost cytogenetic
test, 3 children (8,82%) with free trisomy ( non-disjunction), 1 (2,9 %) with translocation, and 1 (2,9 %) with
mosaics. We also group them into 5 maternal age categories : < 20 years ( 1 mother), 21-21 years (2
mothers), 25-30 years (4 mothers), 31-35 years (12 mothers), 31-40 years (10 mothers) and > 41 years (5
mothers). The most common clinical features found is congenital heart disease (CHD) , recognized in 9 (29
%) patients, followed by dental problems (8 patients,25,8 %), ophthalmology problems (6 patients,19,4%),
digestive problems (4 patients, 12,9%), seizure (1 patient,3,2%), hormonal problems (1 patient, 3,2%), and
hearing problem (1 patient, 3,2%). We also found that there is no significant di erence in CHD prevalence
between each maternal age group (p = 0776 , p>0.05).
Conclusion: DS has higher prevalence in males and is frequently seen among 31 -35 years of maternal age,
yet maternal age didn't seem to influence CHD prevalence significantly. Early diagnosis and proper
screening should be undertaken among these patients.

Keyword : down syndrome (DS), cytogenetic, sex ratio, maternal age, clinical features