Deletion of the long arm of chromosome 6: two new patients and literature review
1996; Wiley; Volume: 50; Issue: 3 Linguagem: Inglês
10.1111/j.1399-0004.1996.tb02368.x
ISSN1399-0004
AutoresL. J. M. Evers, C. T. R. M. Schrander‐Stumpel, J.J.M. Engelen, T. M. Hoorntje, C. F. M. Pulles‐Heintzberger, J. J. P. Schrander, J.C.M. Albrechts, J. Peters, J. P. Fryns,
Tópico(s)DNA and Nucleic Acid Chemistry
ResumoTwo children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46, XX, del(6)(q16.2q23.1)], and a boy with a terminal deletion [46, XY, del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
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