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Case Report
Online Published: 11 Dec 2024
 


A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report

Rayan Khalid, Imad Fadl-Elmula.


Abstract
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
We report a recent case of a 7-year-old boy brought in by his mother seeking a diagnosis for the condition of her child. The father deceased 6 years earlier, and the obstetrical history of the mother revealed 3 first trimester recurrent abortions. Upon examination, the child was found to have short stature, dysmorphic features, atrial septal defect, cognitive disability, and other neurological abnormalities. The mother's karyotype analysis showed a normal female karyotype 46,XX, while the child's analysis revealed mosaic trisomy of chromosome 22 syndrome 47,XY,+22/46,XY. This case marks the first documented case of this syndrome in Sudan.

Key words: Mosaic trisomy chromosome 22; Short stature; Chromosomal analysis


 
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Pubmed Style

Khalid R, Fadl-Elmula I. A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. Sudan J Paed. Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421

Web Style

Khalid R, Fadl-Elmula I. A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. https://sudanjp.com//?mno=198262 [Access: December 11, 2024]. doi:10.24911/SJP.106-1713472421

AMA (American Medical Association) Style

Khalid R, Fadl-Elmula I. A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. Sudan J Paed. Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421


Vancouver/ICMJE Style

Khalid R, Fadl-Elmula I. A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. Sudan J Paed, [cited December 11, 2024]; Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421


Harvard Style

Khalid, R. & Fadl-Elmula, . I. (2024) A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. Sudan J Paed, Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421


Turabian Style

Khalid, Rayan, and Imad Fadl-Elmula. 2024. A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. Sudanese Journal of Paediatrics, Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421


Chicago Style

Khalid, Rayan, and Imad Fadl-Elmula. "A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report." Sudanese Journal of Paediatrics Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421


MLA (The Modern Language Association) Style

Khalid, Rayan, and Imad Fadl-Elmula. "A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report." Sudanese Journal of Paediatrics Online First: 11 Dec, 2024. Web. 11 Dec 2024 doi:10.24911/SJP.106-1713472421


APA (American Psychological Association) Style

Khalid, R. & Fadl-Elmula, . I. (2024) A rare mosaic trisomy 22 syndrome in a 7-Year-old boy: Rare case report. Sudanese Journal of Paediatrics, Online First: 11 Dec, 2024. doi:10.24911/SJP.106-1713472421




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