异常染色体核型
摘要
近年来,染色体技术也得到了较快的发展,各种新的染色体疾病和异常染色体核型不断被发现,本文就这一领域的最新进展作一综述.
出处
《中国优生与遗传杂志》
2006年第2期121-122,共2页
Chinese Journal of Birth Health & Heredity
参考文献10
-
1Kim YM, Cho EH, Kim JM, Lee MH, Park SY, Ryu HM. Del (18p) syndrome with increased nuchal translucency in prenatal diagnosis[J]. Prenat Diagn, 2004 Mar, 24(3) :161 -4.
-
2Giuffre M, La Placa S, Carta M, Cataliotti A, Marino M, Piccione M, Pusatefi F, Mcli F, Corsello G. Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome : further evidence for a putative gene on 4q[J]. Am J Med Genet A, 2004 Apt 15,126(2) : 186 -90.
-
3Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of contactin 4 ( CNTN4 ) results in developmental delay and other features of 3p deletion syndrome[ J ]. Am J Hum Genet, 2004 Jun ,74(6) :1286 -93. Epub 2004 Apr 21.
-
4Ozbek N, Derbent M, Olcay L, Yilmaz Z, Tokel K. Dysplastic changes in the peripheral blood of children with microdeletion 22q 11.2 [ J ]. Am J Hematol,2004 Oct, 77 ( 2 ) : 126 - 31.
-
5Giagounidis AA, Germing U, Wainscoat JS, Bouhwood J, Aul C. The 5 q. syndrome [ J ]. Hematology, 2004 Aug,9 ( 4 ) :27 1 - 7.
-
6Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A. Geschwindt R,Chudley AE, Saraiva J, Schinzel AA, Guichet A. Dobyns WE, Toutain A, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher. Schinzel ( 3C ) syndrome [ J ]. Am J Med Genet A,2005 Feb 9. [ Epub ahead of print ].
-
7Williams NM, Owen MJ. Genetic abnormalities of chromosome 22 and the development of psychosis. Curt Psychiatry Rep [ J ] , 2004 Jun, 6 (3) :176 -82.
-
8Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus G, Rauch A, Reis A. Severe,neonatal -onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t( X ;5 ) ( p21.1 ;q11 ) [ J ]. Am J Med Genet A,2005 Jan 15,132(2) :185 -8.
-
9Itokawa M,Kasuga T, Yoshikawa T' Matsushita M. Identification of a male schizophrenic patient carrying a de novo balanced translocation, t (4 ; 13 ) ( p 16.1 ; q21.31 ) [ J ]. Psychiatry Clin Neurosci, 2004 Jan, 58(3) :333.7.
-
10Nowaczyk M J, Bayani J, Freeman V, Watts J, Squire J, Xu J. De novo lq32q44 duplication and distal lq trisomy syndrome [ J ]. Am J Med Genet A,2003 Jul 15,120(2) :229, 33.
-
1卢洁.46,X,t(Y;Y)伴先天性尿道下裂隐睾一例[J].中华医学遗传学杂志,1996,13(5):313-313. 被引量:1
-
2王明泉,庄建良,许荣誉,高晶晶,林丽屏.1329例男性不育症染色体核型分析[J].中国优生与遗传杂志,2008,16(8):59-59. 被引量:5
-
3刘春玲,吴晓云,邱惠麒,邵生声,朱玉蓉,李晓荣.无精子症和严重少精子症患者Y染色体微缺失、染色体核型和性激素结果分析[J].中华男科学杂志,2013,19(10):890-895. 被引量:7
-
4张美华,盖凌,张爱东,杨丹彤.286例男性不育患者细胞遗传学分析[J].现代检验医学杂志,2013,28(2):150-151. 被引量:1
-
5纪妍,徐宏甲,黄健初.133例男性原发不育患者染色体核型及Y染色体微缺失分析[J].南方医科大学学报,2010,30(2):388-390. 被引量:8
-
6张美华,邱毅,杨丹彤,盖凌,张爱东.290例精液异常不育患者的染色体核型分析[J].中国男科学杂志,2012,26(1):50-52.
-
7叶尔登切切克,夏燕,韩锐,武爽,刘翛然,段玲.233例男性不育患者染色体核型及Y染色体微缺失分析[J].中国优生与遗传杂志,2016,24(7):34-35. 被引量:4
-
8崔英霞,王咏梅,徐建平,黄宇烽.与精子发生障碍相关的染色体畸变[J].中华男科学杂志,2001,7(2):99-101. 被引量:18
-
9李忻,靳耀英,张韫,杨鑫,李平,高福云,郭景珍.681例男性不育患者的染色体核型分析[J].中国优生与遗传杂志,2008,16(11):40-41. 被引量:2
-
10黄丹梅.58例性发育不全患者的细胞遗传学分析[J].中华医学遗传学杂志,2009,26(4):479-480. 被引量:2