Journal of Environmental Biology

Fraccaro Syndrome (49,XXXXY): Case study in antenatal and postnatal from South Indian patients, an awareness to the human society

B. Flora Bai^1,2, A. Sujithra², C. Padhiar³, P. Arjun⁴ and A. Wilson Aruni Santhosh Kumar^5,6*     

¹Department of Biotechnology, Sathyabama Institute of Science and Technology, Chennai-600 119, India

²Department of Cytogenetics, Lifecell International Private Ltd., Chennai-600 127, India

³Department of Biologics, Lifecell International Private Ltd., Chennai-600 127, India

⁴Centre for Applied Research, Institute of Biotechnology, Saveetha Institute of Medical and Technical Sciences, Chennai-602 105, India

⁵Department of Biotechnology, Amity University, Mumbai-400 070, India

⁶Musculoskeletal Disease Research Centre, Loma Linda Veterans Affairs, Loma linda-92350 , USA

Received: 30 December 2023                   Revised: 02 February 2024                   Accepted: 18 February 2024

*Corresponding Author Email : drwilsonaruni@hotmail.com                  *ORCiD: https://orcid.org/0000-0002-9208-0153

Abstract

Aim: 49, XXXXY syndrome is a rare chromosomal abnormality with an approximate incidence of 1:85000 – 1:100000. Early diagnosis is important to improve the quality of life of patient. This study was carried out to assess the chromosomal abberations in prenatal and postnatal sample of patients through cytogenetics study.

Methodology: Sex chromosomal aneuplodies were performed in both amniotic fluid and peripheral venous blood samples. Cytogenetic studies such as Karyotyping was done in in-vitro culture cells by GTG banded metaphase slides. FISH test was conducted in raw sample to rule out low grade mosaicism and DNA isolated from both the samples to rule out the gain and loss of genes by Chromosomal microarray technique.

Results: The two cases performed showed aneuploidy with pentasomy sex chromosomes in Karyotyping in all the metaphase analysed and FISH test resulted with five signals in sex chromosome with four copies of X chromosomes and one copy of Y chromosome in all the cells. There was no loss of genes and only gain of genes in X chromosomes as identified in Chromosomal microarray.

Interpretation: Based on the findings, antenatal screening is essential and should not be avoided for any USG findings and biochemical screening. The test should not be limited only to trisomy studies. Extensive studies should be performed to rule out the genetic disorders. Chromosomal aneuploidies can be identified by cytogenetic studies like Karyotyping, FISH and Chromosomal microarray technique.

Key words: Aneuploidy, Chromosomal microarray analysis, Cytogenetics, Fraccaro syndrome, Karyotyping, Pentasomy sex chromosome

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