Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation
2001; Wiley; Volume: 99; Issue: 2 Linguagem: Inglês
10.1002/1096-8628(2001)9999
ISSN1096-8628
AutoresMasaharu Akiyama, Hiroshi Kawame, Hirofumi Ohashi, Takaya Tohma, Hidemi Ohta, Akihiro Shishikura, Ichiro Miyata, Nobuo Usui, Yoshikatsu Eto,
Tópico(s)RNA modifications and cancer
ResumoA nine-month-old boy, with functional disomy for Xq26-qter and multiple congenital abnormalities, is reported. The boy had severe pre- and postnatal growth retardation, profound developmental delay, hypotonia, microcephaly, agenesis of the corpus callosum, dysmorphic facial features, cryptorchidism, and left multidysplastic kidney. He developed feeding difficulties and infantile spasms. G-banding analysis of his chromosomes showed additional material on the short arm of chromosome 21. His parents refused to submit to chromosome analysis. Analysis with chromosome microdissection followed by reverse and forward chromosome painting indicated his karyotype as 46,XY,der(21)t(X;21)(q26;p11.2). This is the first description of pure functional disomy for Xq26-qter due to an unbalanced X-autosome translocation. © 2001 Wiley-Liss. Inc.
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