48、XXYY综合症的英文名字是48,XXYY syndrome。基因解码表明:佳学基因采用基因解码表明,48,XXYY综合症是由基因突变引起的。这种疾病是由于男性个体多拥有两个X染色体和两个Y染色体,而正常男性只有一个X染色体和一个Y染色体。这种额外的染色体是由于精子或卵子在受精过程中发生错误导致的。这种基因突变会导致一系列身体...
48、XXYY综合症的英文名字是48,XXYY syndrome。基因解码表明:XXYY综合症是一种染色体异常疾病,其发生与基因突变有关。 正常情况下,男性个体的性染色体组合为XY,而XXYY综合症患者则具有额外的X和Y染色体,其性染色体组合为48,XXYY。这种染色体异常通常是由于精子或卵子在受精过程中发生错误,导致多余的X和Y染色体进入受精...
48XXYY Syndrome in an adult with type 2 diabetes mellitus, unilateral renal aplasia, and pigmentary retinitis. Case Report Med. 2010; 2010 :612315. [ PMC free article ] [ PubMed ]Zantour B, Sfar MH, Younes S, Alaya W, Kamoun M, Mkaouar E, et al. 48XXYY Syndrome in an adult ...
s syndrome can exist without obvious somatic abnormalities, although these persons are infertile and exhibit differing degrees of mental retardation. Similar syndromes have been described with additional sex chromosomes (48,XXYY, 48,XXXY, etc.). Severity of the symptoms increases with the number ofX...
KLINEFELTER'S syndromeChildhood interstitial lung disease (chILD) is a heterogeneous group of rare respiratory disorders. Genetic causes account for about 20% of the cases in children under two years and are mostly surfactant metabolism abnormalities (1)....
A nineteen year old Caucasian man with the 48, XXYY syndrome is described. The syndrome is discussed, and it is pointed out that this chromosome constitution should be classed as a separate entity since there are physical, dermatoglyphic and mental differences from Klinefelter's 47, XXY syndrome...
48XXYY Syndrome in an adult with type 2 diabetes mellitus, unilateral renal aplasia, and pigmentary retinitis. Case Report Med. 2010. [ Cross Ref ]... B Zantour,MH Sfar,S Younes,... 被引量: 2发表: 2013年 [A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation,...
。患者常见的体征包括身 材高大、乳腺发育、向心性肥胖、皮肤溃疡、智力障碍和“拳击手”面容（ｐｕｇｉｌｉｓｔｉｃｆａｃｅ）。目前文献报道的４８，ＸＸＹＹ综合征已超过７０例，其中只有１例在产前通过母血甲胎蛋白（ＡＦＰ）筛查而诊断，妊娠随即终止［２］。本文报道应用荧光定量ＰＣＲ（ＱＦ ＰＣＲ）技术产前...
Klinefeher综合症患者在 ICSI辅 143(11、:1198—1203. 助生殖时,应进行种植前诊断 (PGD),可以鉴别出 [7] TartagliaN,DavisS,HenchA,eta1.AnewlookatXXYY 染色体异常的受精卵,选择种植高质量的胚胎 ,成 syndrome:medicalandpsychologicalfeatures[J].AmJMed 功生育正常的孩子 ;同时产前诊断对那些不能开展 GenetA...
The 48 XXYY Syndrome in a Beninese Child:Clinical Features and Genetic Considerations We report on an infant with severe tetralogy of Fallot, bilateral preauricular pits, and a 48,XXYY chromosomal complement. This case and evidence collected... S Azonbakin,M Adjagba,N Nbouke,... - iMedPub...