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

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AuteurAZONBAKIN, AZANDEGBE SIMON
AuteurADJAGBA MARIUS, MARIUS
AuteurNBOUKE, NATACHA
AuteurADOVOEKPE, DIANE
AuteurAGBALINSOU, ARNAUD
AuteurALAO, MODJERE OLA MAROUFOU JULES
AuteurGANGBO, FLORE ARMANDE
AuteurLALEYE, OLABISSI ANATOLE A
Date d'ajout2026-06-02T16:06:57Z
Date de disponibilite2026-06-02T16:06:57Z
Date de publication2018
ResumeAbstract 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.
Autre identifiantBECDB-7477
URIhttps://dspace.uac.bj/handle/123456789/6733
Languefr
Fait partie deJournal of Genetic Disorders
Sujet48 XXYY syndrome
SujetDevelopment delay
SujetDysmorphism
TitreThe 48 XXYY Syndrome in a Beninese Child: Clinical Features and Genetic Considerations
TypeArticle

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