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新发无荧光Y染色体的产前诊断

Prenatal diagnosis of a de novo non-fluorescent Y chromosome.

作者信息

Priest J H, Chen A T, Fernhoff P M, Reidy J A, Whitsett C

出版信息

J Med Genet. 1980 Aug;17(4):314-6. doi: 10.1136/jmg.17.4.314.

DOI:10.1136/jmg.17.4.314
PMID:7205908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048578/
Abstract

We report a case with non-mosaic Yq-, missing the fluorescent segment, and detected as a fetus studied for advanced maternal age. The father had a Y chromosome of average size and paternity was established wih a plausibility of 97.7% by HLA and erythrocyte antigen typing. The child had a normal male antigen typing. The child had a normal male phenotype at delivery and developmental milestones were normal through the first year of life. The Yq- showed no mitotic instability since it was retained in foreskin culture for its in vitro lifetime of 60 population doublings.

摘要

我们报告一例非嵌合型Yq-病例,其缺失了荧光片段,该病例是作为高龄产妇所怀胎儿进行检查时被发现的。父亲的Y染色体大小正常,通过HLA和红细胞抗原分型确定亲子关系的可能性为97.7%。孩子具有正常的男性抗原分型。孩子出生时具有正常的男性表型,并且在生命的第一年发育里程碑均正常。Yq-在包皮培养中经过60次群体倍增的体外存活期后仍未显示出有丝分裂不稳定性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1273/1048578/a3c97a0c408e/jmedgene00126-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1273/1048578/a3c97a0c408e/jmedgene00126-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1273/1048578/a3c97a0c408e/jmedgene00126-0071-a.jpg

相似文献

1
Prenatal diagnosis of a de novo non-fluorescent Y chromosome.新发无荧光Y染色体的产前诊断
J Med Genet. 1980 Aug;17(4):314-6. doi: 10.1136/jmg.17.4.314.
2
Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker, idic(Yp).荧光原位杂交(FISH)在产前的应用,用于鉴定嵌合型Y染色体标记idic(Yp)。
Prenat Diagn. 1992 Sep;12(9):709-16. doi: 10.1002/pd.1970120904.
3
[DNA content and Y chromosome size in a patient with 47,XYY syndrome and his father].[一名47,XYY综合征患者及其父亲的DNA含量和Y染色体大小]
Pol Tyg Lek. 1982 Sep 20;37(34-35):1011-3.
4
Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia.一名外生殖器模糊的儿童中双着丝粒Y染色体的两个着丝粒表达不一致。
J Med Genet. 1978 Jun;15(3):232-6. doi: 10.1136/jmg.15.3.232.
5
[Pericentric inversion of the Y chromosome as an exclusion constellation].
Anthropol Anz. 1984 Mar;42(1):67-72.
6
Prenatal evaluation in a case of familial Y chromosome long arm deletion (Yq-).一例家族性Y染色体长臂缺失(Yq-)的产前评估。
J Med Genet. 1974 Dec;11(4):367-70. doi: 10.1136/jmg.11.4.367.
7
Y chromosome duplication in chronic myeloid leukemia.慢性髓性白血病中的Y染色体重复
Nouv Rev Fr Hematol (1978). 1982;24(1):9-12.
8
[Dicentric Yp chromosome as one of the reasons for the absence of fluorescence in human Y chromosome].[双着丝粒Yp染色体作为人类Y染色体缺乏荧光的原因之一]
Tsitologiia. 1983 Jun;25(6):696-8.
9
[RV polymorphism of the chromosomes in newborn infants].[新生儿染色体的RV多态性]
Eksp Med Morfol. 1980;19(3):144-8.
10
Pseudo-drumsticks in granulocytes of a male with a Yqh+ polymorphism.一名具有Yqh+多态性男性粒细胞中的假鼓槌体。
Am J Hematol. 1980;8(4):411-4. doi: 10.1002/ajh.2830080410.

本文引用的文献

1
Prenatal evaluation in a case of familial Y chromosome long arm deletion (Yq-).一例家族性Y染色体长臂缺失(Yq-)的产前评估。
J Med Genet. 1974 Dec;11(4):367-70. doi: 10.1136/jmg.11.4.367.
2
Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics.导致人类XO/XY嵌合体中出现非荧光Y染色体的易位。
Hereditas. 1971;68(2):317-24. doi: 10.1111/j.1601-5223.1971.tb02407.x.
3
Incidence of chromosome aberrations among 11148 newborn children.11148名新生儿的染色体畸变发生率。
Humangenetik. 1975 Oct 20;30(1):1-12. doi: 10.1007/BF00273626.
4
Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal Caucasians.人类Y染色体荧光(f)和非荧光(nf)片段的长度异质性:正常高加索人的分类、频率及发生率
J Med Genet. 1978 Aug;15(4):277-81. doi: 10.1136/jmg.15.4.277.
5
Differentiation in human amniotic fluid cell cultures: chorionic gonadotropin production.
In Vitro. 1979 Feb;15(2):142-7. doi: 10.1007/BF02618111.
6
Three cases of sex chromosome mosaicism with a nonfluorescent Y.
Hum Genet. 1979 Feb 15;46(3):295-304. doi: 10.1007/BF00273313.
7
A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases.一种解释具有非荧光Y染色体的45,X/46,XY嵌合体异常现象的理论。三例病例报告。
Ann Genet. 1978 Mar;21(1):5-11.
8
Utilisation of discarded medium in amniotic-fluid cell cultures.羊水细胞培养中废弃培养基的利用
Lancet. 1977;2(8052-8053):1365. doi: 10.1016/s0140-6736(77)90423-8.