A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review.

Abstract excerpt

INTRODUCTION AND OBJECTIVE: Complete monosomy 21 is a rare and lethal chromosomal disorder, with fewer than 50 cases reported. Its mosaic form is the only viable presentation, yet the full phenotypic spectrum remains poorly understood, prompting this work to expand clinical and cytogenetic insights. METHODS: We report the first genetically confirmed African case in a female infant referred for genetic testing...

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• Chromosome Deletion
• Chromosomes, Human, Pair 21
• Down Syndrome
• In Situ Hybridization, Fluorescence
• Karyotyping