TY  - JOUR
AU  - Maharani, Nani
AU  - Utari, Agustini
AU  - Sihombing, Nydia Rena Benita
AU  - Winarni, Tri Indah
PY  - 2024
DA  - 2024/08/20
TI  - A Child Carrying a Large Deletion in the 10p.15.3-p12.31 Region
JO  - OBM Genetics
SP  - 257
VL  - 08
IS  - 03
AB  - Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-banded analysis. A chromosomal microarray was performed to obtain more detail on the deletion size and gene involvement that might be related to the clinical phenotypes, medical problems, and management. The deletion involved the region of 10p15.3–p12.31, with an approximate size of 19.528739 Mb. The size of deletion could determine the variability in phenotypes, and microarray is necessary to comprehend the deletion size and gene involvement better.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2403257
DO  - 10.21926/obm.genet.2403257
ID  - Maharani2024
ER  -