Titre du document / Document title

Síndrome de Klinefelter 48 XXYY con debut psiquiátrico = Psychiatric debut of Klinefelter syndrome 48 XXYY

Auteur(s) / Author(s)

RODRIGUEZ HERNANDEZ P. J. ⁽¹⁾ ; DUQUE FERNANDEZ R. ⁽¹⁾ ; LOPEZ MENDOZA S. ⁽¹⁾ ; TOLEDO C. ⁽¹⁾ ; MAHTANI CHUGANI V. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Departamento de Pediatría, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, ESPAGNE

Résumé / Abstract

The Klinefelter syndrome is the most frequent chromosomopathy. However, it is very difficult the diagnosis in childhood due to the fact that the phenotypic manifestations are developed during puberty. The most common chromosomal formula is the X diploidy that establishes the 47 XXY karyotype. The 48 XXYY variant is less frequent and the clinical differential characteristic is the higher frequency of psychiatric symptoms and lower phenotypic changes. We report here a case of an 8 and a half years old male patient that manifest scholarship deficiency, language alteration and behavioural disorder. In the physical exploration outstands: percentile 60 in weight and 65 in height, plagiocephalism, narrow thorax, flat eminentia hypothenar, short 5^th finger, finger-nose dysmetria and unstable coordination and deambulation. The chromosomal formula revealed a 48 XXYY karyotype.

Revue / Journal Title

Anales de psiquiatria   ISSN 0213-0599 

Source / Source

2003, vol. 19, n^o1, pp. 26-28 [3 page(s) (article)] (9 ref.)

Langue / Language

Espagnol

Editeur / Publisher

Aran Ediciones, Madrid, ESPAGNE  (1984) (Revue)

Mots-clés anglais / English Keywords

Cytogenetics ; Communication disorder ; Sexual differentiation disorder ; Malformation ; Endocrinopathy ; Hypogonadism ; Supernumerary X chromosome ; Male genital diseases ; Human ; Chromosomal aberration ; Aneuploidy ; School age ; Child ; Male ; Case study ; Clinical investigation ; Supernumerary Y chromosome ; Karyotype ; Genetic variant ; School failure ; Language disorder ; Behavioral disorder ; Symptomatology ; Klinefelter syndrome ;

Mots-clés français / French Keywords

Cytogénétique ; Trouble communication ; Anomalie différenciation sexuelle ; Malformation ; Endocrinopathie ; Hypogonadisme ; Chromosome X surnuméraire ; Appareil génital mâle pathologie ; Homme ; Aberration chromosomique ; Aneuploïdie ; Age scolaire ; Enfant ; Mâle ; Etude cas ; Exploration clinique ; Chromosome Y surnuméraire ; Caryotype ; Variant génétique ; Echec scolaire ; Trouble langage ; Trouble comportement ; Symptomatologie ; Klinefelter syndrome ;

Mots-clés espagnols / Spanish Keywords

Citogenética ; Trastorno comunicación ; Anomalía diferenciación sexual ; Malformación ; Endocrinopatía ; Hipogonadismo ; Cromosoma X supernumerario ; Aparato genital macho patología ; Hombre ; Aberración cromosómica ; Aneuploidía ; Edad escolar ; Niño ; Macho ; Estudio caso ; Exploración clínica ; Cromosoma Y supernumerario ; Cariotipo ; Variante genética ; Fracaso escolar ; Trastorno lenguaje ; Trastorno conducta ; Sintomatología ; Klinefelter síndrome ;

Localisation / Location

INIST-CNRS, Cote INIST : 27232, 35400010408103.0060