A rare sex chromosome aneuploidy: 48,XXYY syndrome.

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Authors: Tahir Atik, Ozgur Cogulu and Ferda Ozkinay
Date: June 2016
From: Turkish Pediatrics Archive(Vol. 51, Issue 2)
Publisher: AVES
Document Type: Report
Length: 1,613 words

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48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia. He was the first and only child of nonconsanguineous parents. He had a history of mild developmental retardation. In his history, it was learned that he received treatment for gastroesophageal reflux and his symptoms improved with treatment. On physical examination, his weight was found to be 31 kg (>97 centile) and his height was found to be 123 cm (90 centile). He had upslanted palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome. (Turk Pediatri Ars 2016; 51: 106-9)

Keywords: Klinefelter syndrome, sex chromosome abnormality, XXYY syndrome


48,XXYY syndrome which is one of the sex chromosome aneuploidies was described by Muldal et al. (1) in 1960 for the first time as a rare type of Klinefelter syndrome (47,XXY) because of presence of one more Y chromosome compared to Klinefelter syndrome. Currently, it is considered a separate clinical and genetic condition. Although it is phenotypically similar to Klinefelter syndrome in many aspects, it is especially differentiated with mental retardation and psychiatric disorders (2, 3).

Here, a patient who was hospitalized because of dyspepsia and underwent karyotype analysis because of minor dysmorphic findings and borderline intellectual disability and whose karyotype was found to be 48,XXYY has been presented.


A six-year old male patient presented with attacks of abdominal swelling which recurred in the last one year and frequent upper respiratory infections. He was the only child of the parents who were not consanguineous born at term by normal spontaneous vaginal delivery with a birth weight of 2 800 g. It was learned that he sat with support at the age of eight months, walked at the age of 18 months and spoke single words at the age...

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Source Citation
Atik, Tahir, et al. "A rare sex chromosome aneuploidy: 48,XXYY syndrome." Turkish Pediatrics Archive, vol. 51, no. 2, June 2016, pp. 106+. Accessed 28 Sept. 2022.

Gale Document Number: GALE|A496451022