48,XXXX syndrome in a 1-year-old girl
Borzani, M.; Adamoli, L.; Longhi, R.; Nocera, G.; Tibiletti, M.G.
Minerva Pediatrica 34(13-14): 621-626
1982
ISSN/ISBN: 0026-4946 PMID: 6811843 Document Number: 4904
After a description of a child with 48,XXXX karyotype and a review of the approximately 30 cases reported in the literature, the common and less common phenotypical aspects of the condition are analysed. A comparative table summarises the alterations caused by the genotype, and language anomalies, especially in the articulation of words, aggravating the nearly constant mental deficiency (IQ 50-85), are specifically underlined. Psychointellectual recovery treatment is therefore indicated for all children with 48,XXXX karyotype. Phenotypically, 48,XXXX karyotype does not lead to serious or specific malformations which explains why most cases are not diagnosed until after puberty during gynaecological check-ups. Cytogenetic examination using the Q.F.Q. bandage technique on peripheral blood lymphocytes, stimulated with phytohaemoagglutinin (P.H.A.) is described and the mechanisms which may lead to the appearance of an × tetrasomia are discussed.
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