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Title: An extra idic(21)(q22.1) in a child with some features of Down’s syndrome
Short report
Keywords: Down’s syndrome;karyotype–phenotype correlation;21q proximal tetrasomy
Publisher: Clinical Genetics
Description: A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t′′, and ulnar loops on both forefingers was found to have a 47,XY,+psu idic(21)(q22.1).ish psu idic(21)(q22.1)(D13Z1/D21Z1++,ETS2−) karyotype. The patient’s phenotype, with only some Down’s syndrome (DS) features, is probably related to his disomy for most or all of the critical region 21q22.2[RIGHTWARDS ARROW]q22.3 and agrees with the current notion that certain DS features may also result from 21q proximal duplications. The phenotypical comparison with 2 other patients with a similar extra idic(21) reveals some discrepancies, which may be related to the inherent clinical variability of similar imbalances; yet, a real difference between the tetrasomic segments cannot be excluded. Noticeably, all 3 patients with 21q proximal tetrasomy did not have cardiac defect and exhibited none or just one out of the five other DS phenotypic features attributed to a single gene or cluster on distal 21q22.
Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Other Identifiers: Gutiérrez-Angulo, M., Ramos, A., Dávalos, N., Sánchez-Corona, J. and Rivera, H. (1999), An extra idic(21)(q22.1) in a child with some features of Down’s syndrome. Clinical Genetics, 55: 203–206. doi: 10.1034/j.1399-0004.1999.550309.x
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