Cytogenetic abnormalities and clinical presentation in down syndrome patients

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Author Details : Aaishwarya Dilip Dhabe, Harsha Hemant Jaykar*, Ravindra C. Nimbargi

Volume : 5, Issue : 1, Year : 2020

Article Page : 35-39

https://doi.org/10.18231/j.jdpo.2020.007

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Abstract

Total 60 samples were received for karyotyping from patients of developmental delay, dysmorphism and
mental retardation, of which 20 cases showed trisomy 21. There was an equal incidence in males and
females. All neonates (20%) showed broad short neck and decreased muscle tone at birth. Most common
feature in infants (50%) was depressed nasal bridge and slanting eyes. All children (30%) presented with
developmental delay and mental retardation. Low set ears and depressed nasal bridge (80%) was the most
common finding across all age groups. Most common CHD was VSD (20%). Robertsonian translocation
involving 14q and 21q was seen in 15 % cases. One case presented with transient abnormal myelopoiesis
at birth. One case presented with additional balanced t(10;18)

Keywords: DS Downs syndrome, Robertsonian translocation, TAM Transient abnormal myelopoiesis

How to cite : Dhabe A D, Jaykar H H, Nimbargi R C, Cytogenetic abnormalities and clinical presentation in down syndrome patients. IP J Diagn Pathol Oncol 2020;5(1):35-39

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