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Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

作者信息

Bartley J A, Patil S, Davenport S, Goldstein D, Pickens J

出版信息

J Pediatr. 1986 Feb;108(2):189-92. doi: 10.1016/s0022-3476(86)80980-5.

DOI:10.1016/s0022-3476(86)80980-5
PMID:3003318
Abstract

We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.

摘要

相似文献

1
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
J Pediatr. 1986 Feb;108(2):189-92. doi: 10.1016/s0022-3476(86)80980-5.
2
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
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3
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Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106.
4
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.一名患有杜氏肌营养不良症、甘油激酶缺乏症和肾上腺发育不全的男孩，其DXS68位点（L1探针位点）近端存在缺失。
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5
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.杜氏肌营养不良伴肾上腺皮质功能不全和甘油激酶缺乏症：分子、生化和临床研究的高分辨率细胞遗传学分析
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6
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.人类X染色体短臂Xp21区域内甘油激酶缺乏症和先天性肾上腺发育不全的精细定位。
Am J Med Genet. 1988 Mar;29(3):557-64. doi: 10.1002/ajmg.1320290313.
7
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.伴有甘油激酶缺乏和先天性肾上腺发育不全的Xp21.2家族性缺失。
Hum Genet. 1987 Dec;77(4):379-83. doi: 10.1007/BF00291430.
8
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.先天性肾上腺发育不全、肌病与甘油激酶缺乏症：缺失的分子遗传学证据
Am J Hum Genet. 1987 Mar;40(3):212-27.
9
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
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10
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.先天性肾上腺发育不全、杜氏肌营养不良症和甘油激酶缺乏症：实验室检查在明确连续性基因缺失综合征中的重要性。
Clin Chem. 1994 Nov;40(11 Pt 1):2099-103.

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Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.在一名患有先天性肾上腺发育不全的女性中，X染色体失活偏倚与表型相关。
J Med Genet. 2008 Sep;45(9):e1. doi: 10.1136/jmg.2007.055129.
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Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病：综述
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6
Partial gene duplication in Duchenne and Becker muscular dystrophies.杜兴氏和贝克氏肌肉营养不良症中的部分基因重复
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Short stature: a common feature in Duchenne muscular dystrophy.
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8
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.对雄性存活缺失和重复进行分子分析，可对Xq近端的52个DNA探针进行排序。
Am J Hum Genet. 1988 Oct;43(4):452-61.
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Microdeletion syndromes, balanced translocations, and gene mapping.微缺失综合征、平衡易位与基因定位。
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10
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