Hereditary spherocytic anemia with deletion of the short arm of chromosome 8
| Autor: | Yoshinao Wada, Shiro Miwa, Kikuno Murayama, Yoich Nakamura, Masahiro Nakayama, Hide-aki Chiyo, Akira Hirono, Yoshihito Yawata, Nobuhiko Okamoto, Akio Kanzaki, Takahumi Inoue |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Hemolytic anemia Pathology medicine.medical_specialty Erythrocytes Adolescent Spherocytosis Spherocytosis Hereditary Biology Contiguous gene syndrome medicine Humans Ankyrin Spectrin Child Genetics (clinical) chemistry.chemical_classification Genetics Erythrocyte Membrane Infant Chromosome Karyotype medicine.disease chemistry Child Preschool Hereditary Diseases Microscopy Electron Scanning Female Chromosome Deletion Chromosomes Human Pair 8 |
| Zdroj: | American Journal of Medical Genetics. 58:225-229 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320580306 |
| Popis: | We describe a 30-month-old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XY,del(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p– have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux et al. [1990: Nature 345:736–739] established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiple congenital anomalies should be investigated by high-resolution chromosomal means to differentiate this syndrome. © 1995 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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