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核型正常的家族性囊状水瘤

Familial cystic hygroma with normal karyotype.

作者信息

Watson W J, Thorp J M, Seeds J W

机构信息

Maternal Fetal Medicine, University of North Carolina, Chapel Hill 27599-7570.

出版信息

Prenat Diagn. 1990 Jan;10(1):37-40. doi: 10.1002/pd.1970100107.

DOI:10.1002/pd.1970100107
PMID:2179939
Abstract

A patient is described who had three consecutive fetuses with cystic hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with cystic hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but cystic hygroma may also occur in association with a variety of syndromes, some of which have other patterns of inheritance.

摘要

本文描述了一位患者,其连续三次怀孕的胎儿均患有囊性水瘤和水肿,其中两个胎儿的染色体核型记录显示正常。约20%患有囊性水瘤的胎儿染色体核型正常,其中许多还伴有其他严重畸形。有人推测其遗传模式为常染色体隐性遗传,但囊性水瘤也可能与多种综合征相关,其中一些综合征具有其他遗传模式。

相似文献

1
Familial cystic hygroma with normal karyotype.核型正常的家族性囊状水瘤
Prenat Diagn. 1990 Jan;10(1):37-40. doi: 10.1002/pd.1970100107.
2
Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtype.与颈部囊状水瘤相关的非免疫性胎儿水肿:常染色体隐性亚型的进一步证据。
Genet Couns. 1999;10(3):271-5.
3
Prenatal ultrasonic diagnosis of cystic hygroma associated with fetal hydrops--report of two cases.产前超声诊断与胎儿水肿相关的囊状水瘤——两例报告
Isr J Med Sci. 1989 Jan;25(1):51-3.
4
Congenital cystic hygroma of the neck diagnosed prenatally: outcome with normal and abnormal karyotype.产前诊断的颈部先天性囊状水瘤:正常和异常核型的结局
Prenat Diagn. 1989 May;9(5):321-7. doi: 10.1002/pd.1970090504.
5
Spontaneous resolution of fetal cystic hygroma and hydrops in Turner syndrome.Turner综合征中胎儿囊状水瘤和水肿的自然消退
Obstet Gynecol. 1989 May;73(5 Pt 2):862-5.
6
Multiple marker screening test: identification of fetal cystic hygroma, hydrops, and sex chromosome aneuploidy.多项标志物筛查试验:胎儿颈部水囊瘤、水肿及性染色体非整倍体的识别
J Matern Fetal Med. 1996 Jan-Feb;5(1):31-5. doi: 10.1002/(SICI)1520-6661(199601/02)5:1<31::AID-MFM7>3.0.CO;2-U.
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First-trimester diagnosis of cystic hygroma--course and outcome.孕早期囊性水瘤的诊断——病程与结局
Am J Obstet Gynecol. 1992 Jul;167(1):94-8. doi: 10.1016/s0002-9378(11)91634-2.
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Spontaneous resolution of a cystic neck mass in a fetus with normal karyotype.
AJR Am J Roentgenol. 1989 Aug;153(2):380-2. doi: 10.2214/ajr.153.2.380.
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[Cystic hygroma of the neck. Antenatal diagnosis, prognostic factors, management. 42 cases].[颈部囊状水瘤。产前诊断、预后因素及处理。42例]
J Gynecol Obstet Biol Reprod (Paris). 1991;20(4):487-95.
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The observation and karyotypic implications of cystic hygroma in the first trimester.孕早期颈部水囊瘤的观察及核型分析意义
Birth Defects Orig Artic Ser. 1990;26(3):70-2.

引用本文的文献

1
A unique case of recurrent fetal cystic hygroma: first fetus with an inherited heteromorphism of chromosome 1 (1qh+) and the second fetus with 69XXX triploidy.一个独特的复发性胎儿囊状水瘤病例:第一胎胎儿具有染色体 1(1qh+)的遗传性异态性,第二胎胎儿具有 69XXX 三倍体性。
Rom J Morphol Embryol. 2020 Jul-Sep;61(3):935-940. doi: 10.47162/RJME.61.3.34.