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腭裂的性连锁遗传

Sex-linked inheritance of cleft palate.

作者信息

Rushton A R

出版信息

Hum Genet. 1979 Apr 27;48(2):179-81. doi: 10.1007/BF00286901.

DOI:10.1007/BF00286901
PMID:457141
Abstract

A family pedigree is reported in which males in four generations are affected with midline isolated cleft palate. This is the second report of cleft palate inherited as a sex-linked recessive trait, and it emphasizes the importance of careful pedigree construction when counseling families of children afflicted with this disorder.

摘要

本文报告了一个家系,其中四代男性均患有中线孤立性腭裂。这是第二例腭裂作为X连锁隐性性状遗传的报告,它强调了在为患有这种疾病的儿童家庭提供咨询时,仔细构建系谱的重要性。

相似文献

1
Sex-linked inheritance of cleft palate.腭裂的性连锁遗传
Hum Genet. 1979 Apr 27;48(2):179-81. doi: 10.1007/BF00286901.
2
Mendelian inheritance of isolated nonsyndromic cleft palate.孤立性非综合征性腭裂的孟德尔遗传
Am J Med Genet. 1986 Jul;24(3):465-73. doi: 10.1002/ajmg.1320240309.
3
X-linked cleft palate.X连锁腭裂
Birth Defects Orig Artic Ser. 1971 Jun;7(7):76-9.
4
A further X-linked isolated nonsyndromic cleft palate family with a nonexpressing obligate affected male.另一个X连锁孤立性非综合征性腭裂家系,其中有一名未表现出症状的必然患病男性。
Am J Med Genet. 1987 Jan;26(1):239-40. doi: 10.1002/ajmg.1320260140.
5
Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.瑞典非综合征性唇裂伴或不伴腭裂家系候选区域的连锁分析
Cleft Palate Craniofac J. 2000 Jul;37(4):357-62. doi: 10.1597/1545-1569_2000_037_0357_laocri_2.3.co_2.
6
X-linked cleft palate.X连锁腭裂
Am J Med Genet. 1987 Oct;28(2):503-5. doi: 10.1002/ajmg.1320280229.
7
Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs.比利牛斯牧羊犬中具有单基因常染色体隐性遗传的唇腭裂。
Cleft Palate Craniofac J. 2009 Jan;46(1):81-8. doi: 10.1597/06-229.1. Epub 2008 Mar 5.
8
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.不列颠哥伦比亚省一个本地家族中导致X连锁腭裂(CPX)的基因定位于磷酸甘油酸激酶1(PGK1)和Y染色体特异性序列1(DXYS1)之间。
Am J Hum Genet. 1992 May;50(5):1129-36.
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Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance.拳师犬非综合征性唇腭裂:单基因常染色体隐性遗传的证据
Cleft Palate Craniofac J. 2012 Nov;49(6):759-60. doi: 10.1597/11-110. Epub 2011 Aug 1.
10
Left lip and palate-recurrence risk and genetic counseling.左侧唇腭裂——复发风险与遗传咨询
Acta Univ Carol Med Monogr. 1973;56:83-90.

引用本文的文献

1
Prenatal diagnosis of foetal hydrocephalus and suspected X-linked recessive inheritance of cleft lip in a Chihuahua.一只吉娃娃犬胎儿脑积水的产前诊断及唇裂疑似X连锁隐性遗传
J Vet Med Sci. 2020 Feb 18;82(2):212-216. doi: 10.1292/jvms.18-0516. Epub 2019 Dec 27.
2
An insight into genetics of non-syndromic cleft palate.非综合征性腭裂的遗传学洞察。
Adv Biomed Res. 2013 Mar 6;2:6. doi: 10.4103/2277-9175.107969. Print 2013.
3
Evaluation of 22q11.2 deletion in Cleft Palate patients.腭裂患者22q11.2缺失的评估。

本文引用的文献

1
Sex-linked cleft palate in a British Columbia Indian family.
Pediatrics. 1970 Jul;46(1):123-8.
2
Incidence of cleft lip and palate in the offspring of cleft parents.唇腭裂患者后代中唇腭裂的发病率。
Clin Genet. 1971;2(3):155-9. doi: 10.1111/j.1399-0004.1971.tb00271.x.
3
Facial clefting and its syndromes.面部裂及其综合征。
Birth Defects Orig Artic Ser. 1971 Jun;7(7):3-49.
Ann Maxillofac Surg. 2012 Jul;2(2):121-6. doi: 10.4103/2231-0746.101334.
4
Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds.对曼尼托巴门诺派和不列颠哥伦比亚原住民家族中X连锁腭裂和舌系带过短的连锁分析。
Hum Genet. 1994 Aug;94(2):141-8. doi: 10.1007/BF00202859.
5
Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred.
Hum Genet. 1995 Mar;95(3):342-6. doi: 10.1007/BF00225205.
6
Dominant inheritance of cleft of the soft palate.
Hum Genet. 1980;53(3):341-2. doi: 10.1007/BF00287053.
7
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.不列颠哥伦比亚省一个本地家族中导致X连锁腭裂(CPX)的基因定位于磷酸甘油酸激酶1(PGK1)和Y染色体特异性序列1(DXYS1)之间。
Am J Hum Genet. 1992 May;50(5):1129-36.
4
The genetics of cleft lip and cleft palate.唇腭裂的遗传学
Am J Hum Genet. 1970 May;22(3):336-52.
5
A family study on cleft lip with or without cleft palate and posterior cleft palate in Hungary.
Hum Hered. 1972;22(5):405-16. doi: 10.1159/000152518.
6
Updating the genetics of cleft lip and palate.
Birth Defects Orig Artic Ser. 1974;10(8):107-11.
7
A genetic study of facial clefting in Northern England.英格兰北部面部裂隙的基因研究。
Clin Genet. 1976 Mar;9(3):277-84. doi: 10.1111/j.1399-0004.1976.tb01575.x.
8
Estimation of polygenic recurrence risk for cleft lip and palate.唇腭裂多基因复发风险的评估。
Hum Hered. 1976;26(5):327-36. doi: 10.1159/000152824.
9
"Newer" facial clefting syndromes.“新型”面部裂综合征
Birth Defects Orig Artic Ser. 1977;13(3B):1-9.