Trisomy 8 (Warkany Syndrome 2) Report Of Two Cases

Trisomy 8 is an uncommon anomaly in neonates, frequently being a lethal condition among individuals with pure trisomiclines and more tolerable in mosaics cases. This aneuploidy is mainly characterized by a moderate - severe intellectual deficitand poor motor coordination. Affected individuals presen...

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Detalles Bibliográficos
Autores: Talavera-Vargas-Machuca, Sergio, Gamboa-Ore, Ismenia, Mendoza-Ibáñez, Elina, Fajardo-Loo, María Luisa, Torres-Gonzáles, Dina, Zevallos-Murgado, Jackeline, Barrientos-Marca, Ruth, Contreras-Aguilar, Leonor
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:Perú
Institución:Instituto Nacional Materno Perinatal
Repositorio:Revista Peruana de Investigación Materno Perinatal
Idioma:español
OAI Identifier:oai:investigacionmaternoperinatal.inmp.gob.pe:article/67
Acceso en línea:https://investigacionmaternoperinatal.inmp.gob.pe/index.php/rpinmp/article/view/67
Access Level:acceso abierto
Palabra clave:Trisomy 8
Trisomy 8 Syndrome
Warkany Syndrome
Warkany Syndrome 2
Trisomía 8
Síndrome de Trisomía 8
Síndrome de Warkany
Síndrome de Warkany 2
Descripción
Sumario:Trisomy 8 is an uncommon anomaly in neonates, frequently being a lethal condition among individuals with pure trisomiclines and more tolerable in mosaics cases. This aneuploidy is mainly characterized by a moderate - severe intellectual deficitand poor motor coordination. Affected individuals presents craniofacial malformations, prominent forehead, arched palate,deformed ears with low implantation, elongated trunk, reduced motility, articular defects and deep plantar grooves, which isone of the main characteristics of this condition. Abnormalities of internal organs are of varying severity. We present the reportof two cases of trisomy 8 or Warkany syndrome 2 born at Instituto Nacional Materno Perinatal.