摘要
患儿女,10岁,因身材矮小就诊。患儿为第1胎足月顺产,出生时父亲29岁、母亲27岁。父母为非近亲婚配,智力均正常,否认家族中有类似和其它遗传病。患者祖母身高150cm。祖父身高170cm。患儿查体:身高138cm,体重31k,眼距正常,耳位不低.腭弓正常.无伸舌样痴呆,甲状腺不大,后发髻不低,无肘外翻,无通贯手,智力正常,乳房开始正常发育。查骨龄示:此患儿骨龄相当于9~11岁,基本符合实际年龄。
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2010年第4期405-405,共1页
Chinese Journal of Medical Genetics
同被引文献13
-
1Morizio E,Stuppial L,Gatta V,et al. Deletion of the SHOX gene in patients with short stature of unknown cause. Am J med Genet, 2003,119 : 293-296.
-
2Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr, 2011,75:81-89.
-
3Temtamy SA, Ghali I, Salam MA, et al. Karyotype/phentotype correlation in females with short stature. Clin Genet, 1992,41: 147-151.
-
4Ahzad HA,Ramli SF, Loong TM, et al. Denovo ring chromosome 6 in a ehild with multiple congenital anomalies. Kobe J Med Sei, 2010,56:79-84.
-
5Dominguez MG, Barros NP, Gonzalez RA, et al. Variegated-like mosaicism and ring syndrome in a r (4)boy, appraisal of 38 patients with a fairly complete ring 4. Genet Couns, 2010, 21: 411-420.
-
6Andrieux J, Devisme L, Valat AS, et al. Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. Eur J Med Genet, 2005,48: 199-206.
-
7叶丽珍,赵莹,张俊才,等.一例15号环状染色体病例报告.遗传与疾病,1985,2:41-42.
-
8Harada N,Shimokawa O, Nagai T, et al. A 4-Mb critical region for intrauterine growth retardation at 15q26. Clin Genet, 2002, 62:340-342.
-
9Butcher BW,Wilson KS,Kroft SH,et al. Acute leukemia with B-lymphoid and myeloid differentiation associated with an inv (5) (c113q33) in an adult patient. Cancer Genet Cytogent, 2005,157: 62-66.
-
10Oliveira FM, Scrideli CA, Queiroz RG, et al. Acute lymphoblastic leukemia with inv (5) ( q13q31 ) in a pediatric patient. Cancer Genet Cytogenet, 2006,165 : 81-82.
引证文献1
-
1陈佳燕,李健,曾寰,周裕林,吴慧南,葛运生,孔辉,蔡美娇,黄婷婷,沈艳艳,杨超毅,吴琼,王文博,周东兴,陈小露.230例身材矮小患儿染色体核型分析[J].中华医学遗传学杂志,2013,30(4):487-489. 被引量:4
二级引证文献4
-
1苏文,潘丽,崔娓,林萃,陈淑霞,张穗莎,赵理平,邱显荣,周玉球.435例矮小儿童染色体核型分析[J].国际医药卫生导报,2014,20(18):2808-2811.
-
2贺静,赵庆芬,王瑞红,唐新华,朱姝,余蕊,黄文明,李海春,朱宝生.198例Turner综合征患者的核型与临床表现分析[J].中华医学遗传学杂志,2015,32(4):580-582. 被引量:4
-
3任慧颖,张凯,张钰浛,俞冬熠.青岛地区88例身材矮小女童染色体核型分析[J].中国优生与遗传杂志,2015,23(8):62-63. 被引量:1
-
4伏广照.临沂地区380例身材矮小患儿外周血染色体核型分析[J].中国优生与遗传杂志,2017,25(8):58-59.
-
1张伟,吴素碧,陈永芬.5号染色体异常核型六例[J].中华医学遗传学杂志,2003,20(2):142-142. 被引量:1
-
2王河川,刘德祥,殷学军,周郁.罕见的46,X,inv(Xq)伴原发闭经一例[J].遗传,1993,15(2):4-5.
-
3向萍霞,尉庭华,刘翎.罗伯逊易位生育一例罗伯逊易位伴21三体[J].中华医学遗传学杂志,2008,25(4):433-433. 被引量:1
-
4王静,郑刚,张德铭,黄自平,杜闻莹.老年急性心肌梗死患者临床特征的回顾性分析[J].中国医药导刊,2007,9(2):116-118. 被引量:1
-
5李玉闽.13号染色体臂内倒位伴习惯性流产、早产一例[J].中华医学遗传学杂志,1997,14(1):43-43.
-
6赵晓,孙晓纲,冯琦.染色体臂内倒位二例[J].中华医学遗传学杂志,2008,25(2):163-163.
-
7细菌性肺炎会不会传染[J].健康人生,2008(4):33-33.
-
8细菌性肺炎会不会传染[J].中国家庭医生,2005(07X):34-34.
-
9罗竞春,计焱焱,彭衍圣,萧君华,姚音,徐红岩,杨敏燕,郑静华,卢大儒,金力.一个中国人群哮喘与5号染色体的连锁分析[J].中华医学遗传学杂志,1999,16(5):318-320. 被引量:1
-
10陶赞英,蒋海艳,郑明慈.猫叫综合征细胞遗传学和临床研究[J].华夏医学,2008,21(2):222-223. 被引量:2