Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.
Genetics Division, Instituto Nacional de Salud del Niño, San Borja, Peru.
Gioconda
0000-0002-0466-8548
G
Manassero-Morales
School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.
Denisse
D
Alvarez-Manassero
School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.
Alfredo
A
Merino-Luna
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