The 48 XXYY Syndrome in a Beninese Child: Clinical Features and Genetic Considerations

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dc.contributor.authorAZONBAKIN, Simon
dc.contributor.authorADJAGBA MARIUS, MARIUS
dc.contributor.authorNBOUKE, Natacha
dc.contributor.authorADOVOEKPE, Diane
dc.contributor.authorAGBALINSOU, Arnaud
dc.contributor.authorALAO, MODJÉRÉ OLA MAROUFOU JULES
dc.contributor.authorGangbo, Flore
dc.contributor.authorLALEYE, OLABISSI ANATOLE A.
dc.date.accessioned2026-06-02T16:06:57Z
dc.date.available2026-06-02T16:06:57Z
dc.date.issued2018
dc.description.abstractAbstract The 48 XXYY syndrome is a distinct clinical and genetic entity with an incidence of 1/40000 to 1/18000. A 15-month-old child was admitted in genetic clinics for psycho-motor delayed management. The patient disclosed a dysmorphism with hypertelorism, up slanting palpebral fissure, broad, high and bulging forehead, hypertelorism, very marked furrow of the filtrum and the mouth in the shape of a cocked hat, a microstomy and a development delay. The Karyotype study showed a 48, XXYY chromosome which was present in all analyzed cells. Here, we report a case of a patient with 48, XXYY syndrome diagnosed at the age of 15 months old in order to show the particularities of this syndrome in a beninese child.
dc.identifier.otherBECDB-7477
dc.identifier.urihttps://dspace.uac.bj/handle/123456789/6733
dc.language.isofr
dc.relation.ispartofJournal of Genetic Disorders
dc.subject48 XXYY syndrome
dc.subjectDevelopment delay
dc.subjectDysmorphism
dc.titleThe 48 XXYY Syndrome in a Beninese Child: Clinical Features and Genetic Considerations
dc.typeArticle

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