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与13号和18号染色体平衡易位相关的先天性肾上腺皮质增生症。

Congenital adrenal hyperplasia associated with a balanced 13--18 translocation.

作者信息

Petersen F, Knudsen F U, Nielsen M D, Mikkelsen M

出版信息

Eur J Pediatr. 1980 May;133(3):283-5. doi: 10.1007/BF00496091.

DOI:10.1007/BF00496091
PMID:7389742
Abstract

A newborn infant was found to have salt-losing adrenal hyperplasia, ambiguous genitalia, and a balanced translocation between 13q and 18p. The simultaneous occurrence of the two defects is probably coincidental.

摘要

一名新生儿被发现患有失盐型肾上腺增生、生殖器模糊以及13号染色体长臂与18号染色体短臂之间的平衡易位。这两种缺陷同时出现可能是巧合。

相似文献

1
Congenital adrenal hyperplasia associated with a balanced 13--18 translocation.与13号和18号染色体平衡易位相关的先天性肾上腺皮质增生症。
Eur J Pediatr. 1980 May;133(3):283-5. doi: 10.1007/BF00496091.
2
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.13号染色体长臂部分单体性和18号染色体短臂部分三体性：尸检结果的病例报告
J Med Genet. 1986 Jun;23(3):260-3. doi: 10.1136/jmg.23.3.260.
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Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?先天性肾上腺皮质增生症——一项临床与遗传学调查。我们是否检测出男性失盐型患者？
Arch Dis Child. 1980 Aug;55(8):622-5. doi: 10.1136/adc.55.8.622.
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[HLA haplotypes in congenital adrenal hyperplasia (21-hydroxylase deficiency].
An Esp Pediatr. 1984 Oct 31;21(6):583-6.
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HLA associations in 21-hydroxylase deficiency (congenital and late-onset adrenal hyperplasia) in France.
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A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.一例此前未报告的21-羟化酶缺乏症合并巴特综合征及6号与9号染色体平衡易位的病例。
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No linkage between HLA and congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.HLA与17α-羟化酶缺乏所致先天性肾上腺皮质增生症之间无连锁关系。
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Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.120例儿科患者生殖器模糊的细胞遗传学与病因学
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The association between congenital adrenal hyperplasia and HLA in Southern Italy.
Ann N Y Acad Sci. 1985;458:46-51. doi: 10.1111/j.1749-6632.1985.tb14589.x.
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HLA and congenital adrenal hyperplasia due to 11-hydroxylase deficiency.HLA与11β-羟化酶缺乏所致先天性肾上腺皮质增生症
Tissue Antigens. 1979 Aug;14(2):181-2. doi: 10.1111/j.1399-0039.1979.tb00839.x.

引用本文的文献

1
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.疾病相关的平衡染色体重排：人类大规模基因型-表型描绘的资源。
J Med Genet. 2000 Nov;37(11):858-65. doi: 10.1136/jmg.37.11.858.

本文引用的文献

1
Urinary excretion of different corticosteroid-metabolites in oral contraception and pregnancy.口服避孕药及妊娠期间不同皮质类固醇代谢物的尿排泄情况
Acta Endocrinol (Copenh). 1969 Mar;60(3):473-85. doi: 10.1530/acta.0.0600473.
2
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.HLA连锁群内21-羟化酶缺陷基因的遗传定位。
N Engl J Med. 1978 Oct 26;299(17):911-5. doi: 10.1056/NEJM197810262991702.
3
[The frequency of congenital adrenal hyperplasia (cah) in Munich (author's transl)].
Klin Padiatr. 1977 Mar;189(2):172-6.
4
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
Lancet. 1979 May 26;1(8126):1107-8. doi: 10.1016/s0140-6736(79)91789-6.
5
HLA typing of amniotic-fluid cells applied to prenatal diagnosis of congenital adrenal hyperplasia.羊水细胞的HLA分型应用于先天性肾上腺皮质增生症的产前诊断。
Lancet. 1979 May 19;1(8125):1076. doi: 10.1016/s0140-6736(79)92966-0.
6
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
Lancet. 1977;2(8052-8053):1309-12. doi: 10.1016/s0140-6736(77)90362-2.