De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome

• Published in: Journal of medical genetics Vol. 29; no. 10; pp. 747 - 749
• Main Authors: Telvi, L, Pinard, J M, Ion, R, Sinet, P M, Nicole, A, Feingold, J, Dulac, O, Pompidou, A, Ponsot, G
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.10.1992; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Child, Preschool; chromosome 21; Chromosome aberrations; Chromosomes, Human, Pair 21; Dosage Compensation, Genetic; Face - abnormalities; Female; Humans; Intellectual Disability - genetics; man; Medical genetics; Medical sciences; Phenotype; phenotypes; Syndrome; translocation; Translocation, Genetic - genetics; Williams-Beuren syndrome; X Chromosome; Chromosomal aberration; Human; Abnormal X chromosome; Etiopathogenesis; Abnormal chromosome; Female; Abnormal G21 chromosome; Williams Beuren syndrome; Mental retardation; Child; De novo; Differential diagnostic
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.29.10.747

We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.