A Case Report of Rare Sex Chromosomal Aneuploidy: 48,XXXY/49,XXXXY

International Journal of Research in Health Sciences,2015,3,2,252-255.
Published:April 2015
Type:Case Report
Author(s) affiliations:

Rao Swathi S1, Arumugam Meenakshi2, Shetty Prashanth D3, Shenoy Vijaya D4

1MBBS, DNB(Paediatrics), Senior Resident, Department of Paediatrics. 2MSc Biotechnology, Lecturer/Research Associate, Diagnostic Centre for Cytogenetics and Molecular genetics. 3PhD, Professor/ Coordinator, Diagnostic Centre for Cytogenetics and Molecular genetics. 4MBBS, DCH, MD(Paediatrics),Professor/Head of the Department, Department of Paediatrics, INDIA.


The sex chromosome aneuploidy 49,XXXXY is a rare syndrome characterized by mental retardation, severe speech impairment, multiple skeletal defects, genital abnormalities and subtle dysmorphic features. The incidence of 48,XXXY/49,XXXXY is very rare and to our knowledge only few reports of mosaicism have been reported so far but with different cell line proportions. We describe a case with 48,XXXY[16]/49,XXXXY[4] mosaicism in a four year old boy with microcephaly, short stature, expressive speech delay, and clinodactyly. Karyotyping showed mosaicism with 48XXXY[16]/49XXXXY[4] and was confirmed by FISH analysis.

GTG-banded karyogram of the patient with mos48,XXXY/49,XXXXY