Bolaños-Reyes R, González-del Ángel A, Martínez-Nava S, Morales-Gómez P

Language: Spanish
References: 10
Page: 30-33
PDF size: 435.11 Kb.

ABSTRACT

Trisomy 8 is a chromosomal rare abnormality, characterized by mental retardation. Most cases are identified at birth like mosaics. We report a case with this illness by prenatal USG with hydrocephalus and agenesis of corpus callosum. At the birth was noted by physical examination high nasal bridge, bulbous nose, bilateral deep plantar creases and teletelia. Karyotype was performed confirming the suspected diagnosis of mosaic trisomy 8. It is known that the clinical manifestations are highly variable in this entity, which may be underdiagnosed, however the clinical data presented in most cases is the presence of deep vertical plantar creases. Patients usually present hypotonia and severe mental retardation, these are indications to request a cytogenetic study, even without a chromosomal abnormality. We suggest that as part of comprehensive approach to a patient with dysmorphic features and mental retardation, even if not clinically integrated syndromic diagnosis, should be requested to establish a karyotype etiologic diagnosis that allows the medical team to establish a functional outcome or life, implementing preventive and therapeutic strategies and to provide appropriate genetic counseling to the family.

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