三倍体伴独眼畸形且父母的人类白细胞抗原等位基因相同。
Triploidy with cyclopia and identical HLA alleles in the parents.
作者信息
Lambert J C, Philip P, Charpentier G, Ferrari M, Donzeau M, Ayraud N
出版信息
J Med Genet. 1984 Feb;21(1):63-6. doi: 10.1136/jmg.21.1.63.
Abstract
A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.
摘要
在发现严重的超声异常后，终止了22周的妊娠。胎儿检查显示独眼畸形、骶部脊膜膨出和并指畸形。核型为69,XXX。父母具有相同的HLA等位基因A1、A2和Bw21。通过染色体标记分析确定三倍体的机制为双雌受精。讨论了三倍体与前脑无裂畸形的关联以及父母相同的免疫状态。
相似文献
1
Triploidy with cyclopia and identical HLA alleles in the parents.三倍体伴独眼畸形且父母的人类白细胞抗原等位基因相同。
J Med Genet. 1984 Feb;21(1):63-6. doi: 10.1136/jmg.21.1.63.
2
Digynic triploidy in a fetus presenting with semilobar holoprosencephaly.患有半侧叶全前脑畸形的胎儿中的二雌核三倍体。
Taiwan J Obstet Gynecol. 2018 Dec;57(6):881-884. doi: 10.1016/j.tjog.2018.11.001.
3
Identification of the origin of triploidy by HLA markers.
Hum Genet. 1978 Feb 23;41(1):35-44. doi: 10.1007/BF00278869.
4
[Fetal triploidy--diagnosis and sequelae].[胎儿三倍体——诊断与后遗症]
Zentralbl Gynakol. 1991;113(2):111-3.
5
Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and DNA fragment analysis in the third trimester of pregnancy.
Prenat Diagn. 2002 Nov;22(11):984-7. doi: 10.1002/pd.453.
6
HLA study in a live-born infant with triploidy of paternal origin.
Tissue Antigens. 1981 Feb;17(2):240-2. doi: 10.1111/j.1399-0039.1981.tb00690.x.
7
The clinical syndrome of triploidy.
Obstet Gynecol. 1976 Jan;47(1):69-76.
8
[Holoprosencephaly: criteria and consequences for prenatal diagnosis].[全前脑畸形：产前诊断的标准及后果]
Ultraschall Med. 1991 Feb;12(1):16-21. doi: 10.1055/s-2007-1004040.
9
10
[Clinical expression of triploidy].[三倍体的临床表型]
Med Wieku Rozwoj. 2002 Oct-Dec;6(4):329-36.
本文引用的文献
1
[Attempt at a definition of a coefficient of risk of chromosome abnormalities at the beginning of pregnancy].[关于孕期开始时染色体异常风险系数定义的尝试]
J Genet Hum. 1980 Sep;28(3):149-53.
2
Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses.
Hum Pathol. 1981 Nov;12(11):1016-21. doi: 10.1016/s0046-8177(81)80259-6.
3
Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole.人类三倍体：额外单倍体补体的亲本来源与部分葡萄胎发育之间的关系。
Ann Hum Genet. 1982 Jul;46(3):223-31. doi: 10.1111/j.1469-1809.1982.tb00714.x.
4
Maternal-age effect in aneuploidy: does altered embryonic selection play a role?非整倍体中的母龄效应：胚胎选择改变是否起作用？
Am J Hum Genet. 1982 Jul;34(4):558-65.
5
Triploidy in man. Cytogenetical and clinical aspects.人类三倍体。细胞遗传学与临床方面。
Humangenetik. 1974 Feb 21;21(2):103-25. doi: 10.1007/BF00281030.
6
[Triploid (69, XXX) child having lived for 9 days].
Ann Genet. 1974 Dec;17(4):283-6.
7
[Triploidy in the child. I. Study of phenotype. An observation of triploidy with mosaicism 46, XX/69, XXY].[患儿三倍体。I. 表型研究。一例46, XX/69, XXY嵌合型三倍体的观察]
Pediatrie. 1975 Apr-May;30(3):281-98.
8
[Holoprosencephaly by triploidy 69 XXX in a 5 month old fetus].
Ann Genet. 1976 Sep;19(3):191-3.
9
Cyclopia associated with triploidy and hydatidiform mole: a case report.
Teratology. 1978 Oct;18(2):257-61. doi: 10.1002/tera.1420180212.
Zotero 插件