Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation
| Autor: | Takaya Tohma, Hirofumi Ohashi, Masaharu Akiyama, Hidemi Ohta, Nobuo Usui, Hiroshi Kawame, Ichiro Miyata, Yoshikatsu Eto, Akihiro Shishikura |
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| Rok vydání: | 2001 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Microcephaly X Chromosome Chromosomes Human Pair 21 Aneuploidy Chromosomal translocation Biology Translocation Genetic Internal medicine medicine Humans Abnormalities Multiple Agenesis of the corpus callosum Genetics (clinical) X chromosome Infant Karyotype Chromosome microdissection medicine.disease Magnetic Resonance Imaging Chromosome Banding Radiography Endocrinology Cytogenetic Analysis Chromosome 21 |
| Zdroj: | American journal of medical genetics. 99(2) |
| ISSN: | 0148-7299 |
| Popis: | A 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. |
| Databáze: | OpenAIRE |
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