A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
| Autor: | Ichiro Matsuda, Hiroyuki Nunoi, Shigenori Higuchi, Izumi Akaboshi, Akihiko Kitano, Masao S. Sasaki, Hiroyuki Tsuchiya, Yasuhide Yanabe |
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| Rok vydání: | 1990 |
| Předmět: |
Adult
Cellular immunity Microcephaly Pancytopenia Genes Recessive Biology Short stature Bone Marrow medicine Humans Sister chromatids Skin Diseases Infectious Genetics (clinical) Chromosome Aberrations Chromosome Fragility Immunologic Deficiency Syndromes Karyotype Syndrome medicine.disease Abscess medicine.anatomical_structure Karyotyping Immunology Female Bone marrow medicine.symptom Chromosome instability syndrome Sister Chromatid Exchange |
| Zdroj: | Japanese journal of human genetics. 35:263-269 |
| ISSN: | 0021-5074 |
| DOI: | 10.1007/bf01876856 |
| Popis: | A 19-year-old girl is described with microcephaly, short stature, mental retardation, pigmentation of the skin, and recurrent skin abscesses over the whole body. Her elder brother and sister both showed growth and developmental retardation, microcephaly, and anemia. Both died during childhood. Their parents were first cousins. Laboratory studies of the proband revealed hyperchromic erythrocytes with an increased HbF content, thrombocytopenia, an impaired mitogenic response of the PHA-stimulated lymphocytes, and partial impairment of humoral and cellular immunity. She developed pancytopenia in the terminal stage of the disease. Cytogenetic studies of the bone marrow revealed 46,XX, 15p+, -18, +mar karyotype, increased chromosomal aberrations and sister chromatid exchanges, in cultured lymphocytes and skin fibroblasts. She died at age 20. Thus, the disorder in the patient was deduced as an unclassified chromosomal breakage syndrome with an apparently autosomal recessive inheritance. |
| Databáze: | OpenAIRE |
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