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All Journal Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML)
Lestari, Esa Loyallita
Unknown Affiliation
Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Neuroscience

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Down Syndrome Combined with Robertsonian Translocation (13;14) Carrier Lestari, Esa Loyallita; Utari, Agustini; Winarni, Tri Indah; Hendrianingtyas, Meita
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol. 31 No. 2 (2025)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v31i2.2205

Abstract

Down Syndrome (DS) is a genetic disorder in the form of adding chromosome 21 due to abnormal cell division. This condition causes a distinctive physical appearance and intellectual impairment. The prevalence of DS is between 10-11 out of 10,000 live births worldwide. A 2-week-old baby presented with complaints of jaundice with the clinical picture of DS. There was a mild increase in fT4 levels, and TSH levels were still within the reference value range. Karyotype examination showed Robertsonian translocation of chromosomes 13 and 14 and several abnormalities, namely trisomy 21.
Co-Authors Agustini Utari Meita Hendrianingtyas Tri Indah Winarni