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Case Reports
. 2023 May-Jun;17(3):39-45.

XXXYY variant of Klinefelter syndrome: A case report

Ali Alekri  1 , Maryam Busehail  1 , Noorhan Rhayel  1 , Sayed Mohamed Almosawi  1
Affiliations
Case Reports

XXXYY variant of Klinefelter syndrome: A case report

Ali Alekri et al. Int J Health Sci (Qassim). 2023 May-Jun.

Abstract

This case report is about a 19-month-old boy, product of an in vitro fertilization twin pregnancy and born to young non-consanguineous parents, who presented with speech and motor developmental delay. On genetic evaluation, he was found to have the exceedingly rare variant 49, XXXYY of Klinefelter syndrome. Given the rarity of this condition and the limited literature available, this case report will surely add value to the literature.

Keywords: Rare; chromosome aneuploidy; genetic disease.

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Figures

Figure 1
Figure 1
Hypertelorism with wide nasal bridge
Figure 2
Figure 2
Micrognathia with macrodontia. The image was taken recently, at the age of approximately 2 years and 10 months
Figure 3
Figure 3
Ear crease
Figure 4
Figure 4
Left 5th digital clinodactyly
Figure 5
Figure 5
Right varus knee deformity and bilateral pes planus
Figure 6
Figure 6
Patient’s Karyotype, XXXYY pattern
Figure 7
Figure 7
Maternal karyotype showing normal 46, XX
Figure 8
Figure 8
Paternal karyotype showing normal 46, XY
Figure 9
Figure 9
Previous X-ray of both forearms shows bilateral proximal radioulnar cartilaginous synostosis, as highlighted by the red arrows. This X-ray was done when the patient was approximately 7 months of age
Figure 10
Figure 10
Newer X-rays of both forearms shows bilateral proximal radioulnar synostosis of bony type, as highlighted by the red arrows. This X-ray was done when the patient was approximately 2 years and 10 months old
Figure 11
Figure 11
Hip and spine X-rays. Hip X-Ray shows bilateral mild hip acetabular dysplasia with acetabular index of 24.2° at the left and 23° at the right. Spine X-ray shows spina bifida. This X-ray was taken when the patient was approximately 20 months old
See this image and copyright information in PMC

References

    1. Tangshewinsirikul C, Dulyaphat W, Tim-Aroon T, Parinayok R, Chareonsirisuthigul T, Korkiatsakul V, et al. Klinefelter syndrome mosaicism 46,XX/47,XXY:A new case and literature review. J Pediatr Genet. 2020;9:221–6. - PMC - PubMed
    1. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. Sex Dev. 2011;5:109–23. - PubMed
    1. Gupta A, Kumar P, Gupta S, Yadav A. Multiple XY syndrome:A case study. Int J Res Appl Nat Soci Sci (IMPACT:IJRANSS) 2013;1:87–90.
    1. Lecluse-van der Bilt F, Hagemeijer A, Smit E, Visser H, Vaandrager G. An infant with an XXXYY karyotype. Clin Genet. 1974;5:263–70. - PubMed
    1. 49, XXXYY Syndrome Orphanet. [Last accessed on 2021 Aug 08]. Available from: https://www.orpha.net/consor/cgi-bin/oc_exp.php?lng=en&expert=261534 .

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