Rare 48, XYYY syndrome: case report and review of the literature

Maryam Abedi; Arash Salmaninejad; Ebrahim Sakhinia

doi:10.1002/ccr3.1311

Rare 48, XYYY syndrome: case report and review of the literature

Clin Case Rep. 2017 Dec 7;6(1):179-184. doi: 10.1002/ccr3.1311. eCollection 2018 Jan.

Authors

Maryam Abedi¹, Arash Salmaninejad^{2

3}, Ebrahim Sakhinia⁴

Affiliations

¹ Department of Animal Science Faculty of Natural Sciences Tabriz University Tabriz Iran.
² Drug Applied Research Center Student Research Committee Tabriz University of Medical Sciences Tabriz Iran.
³ Medical Genetics Research Center Student Research Committee Department of Medical Genetics Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran.
⁴ Connective Tissue Research Center Department of Medical Genetics Faculty of Medicine and Tabriz Genetic Analysis Centre (TGAC) Tabriz University of Medical Sciences Tabriz Iran.

Abstract

48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.

Keywords: 48, XYYY syndrome; QF‐PCR; chromosomal abnormality; cytogenetic; sex chromosome.

Publication types

Case Reports