Chrysantine Paramayuda, Hannie Kartapradja, Firman P. Idris, Shirley Renatha, Debby D. Ambarwati, Ajeng Amalia Nur, Nanis S. Marzuki
OBJECTIVES: To report variations of chromosomal abnormalities in newborns and children with multiple congenital anomaly (MCA) who were referred to our clinic between 2016-2018, and to report microarray results in one of the patients with normal karyotype. METHODS: Conventional karyotyping was performed on 34 peripheral blood samples and chromosomal microarray was performed on one of the samples with normal karyotyping using Infinium Human CytoSNP-850K v1.2 BeadChip. RESULTS: The subjects consisted of 18 females and 16 males with age ranging from 1 day to 1 year old. Eight (23.5%) patients had 2 malformations combinations, while 26 (76.5%) patients had 3 or more malformations. These malformations include facial anomaly, heart defects, respiratory distress, gastrointestinal tract malformations, neurodevelopmental disorder, skeletal deformity and ambiguous genitalia. Karyotyping results showed normal karyotyping in 55.9% (19/34) of the patients, numerical and structural abnormalities in 29.4% (10/34) and 11.8% (4/34), respectively, and mosaic numerical abnormalities in 2.9% (1/34). Microarray was done on one of the patients who had normal karyotyping, the results showed 4 potentially pathogenic regions in different chromosome; chromosome 1p36.33p36.32, 9q34.3, 16p13.3 and 19p13.3, due to gains of several genes with total sizes of: 1,5 Mbp, 1.2 Mbp, 0.9 Mbp and 2 Mbp, respectively. CONCLUSIONS: Using conventional karyotyping chromosome abnormalities in MCA cases are not always detected. Higher resolution analysis such as chromosomal microarray is required in MCA cases with normal karyotyping to detect gene gains and losses that are too small to be detected by karyotyping which may contribute to the clinical manifestations. Microarray results must be verified further using FISH (Fluorescence In Situ Hybridization) analysis and specific DNA molecular analysis to confirm the significance of the pathogenic regions.