Titre |
The 48 XXYY Syndrome in a Beninese Child: Clinical Features and Genetic Considerations |
Auteurs |
AZONBAKIN Simon [1],
ADJAGBA MARIUS MARIUS [2],
NBOUKE Natacha [3],
ADOVOEKPE Diane [4],
AGBALINSOU Arnaud [5],
ALAO MODJÉRÉ OLA MAROUFOU JULES [6],
Gangbo Flore [7],
LALEYE OLABISSI ANATOLE A. [8],
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Journal: |
Journal of Genetic Disorders |
Catégorie Journal: |
Internationale |
Impact factor: |
0 |
Volume Journal: |
2 |
DOI: |
|
Resume |
Abstract
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. |
Mots clés |
48 XXYY syndrome; Development delay; Dysmorphism |
Pages |
1 - 3 |
Fichier |
(PDF) |