Differential outcomes in an extended family with constitutional t(11;22)(q23.3;q11.2) [0.03%]
染色体异常t(11;22)(q23.3;q11.2)家系的临床表型分析
Su Keyau Kee,Valene Hsu-Lin See,Patrick Chia et al.
Su Keyau Kee et al.
The t(11;22) rearrangement is the most common recurrent familial reciprocal translocation in man. Heterozygote carriers are phenotypically normal but are at risk of subfertility in the male, miscarriages, and producing chromosomally unbalan...
Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation [0.03%]
一例男性婴儿外胚层-中胚层发育不良症型2病例报道及文献复习
Senthilkumar Sankararaman,Dalibor Kurepa,Yiping Shen et al.
Senthilkumar Sankararaman et al.
We report a male infant with typical clinical, pathological and radiological features of otopalatodigital syndrome type 2 (OPD 2) with a novel sequence variation in the FLNA gene. His clinical manifestations include typical craniofacial fea...
Case Reports
Journal of pediatric genetics. 2013 Mar;2(1):33-6. DOI:10.3233/PGE-13045 2013
Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients [0.03%]
遗传学诊所中针对基因芯片 Comparative Genomic Hybridization 的风险评估模型的建立及应用临床信息预测患者异常结果的概率
Rachel M Marano,Laura Mercurio,Rebecca Kanter et al.
Rachel M Marano et al.
Array comparative genomic hybridization (aCGH) testing can diagnose chromosomal microdeletions and duplications too small to be detected by conventional cytogenetic techniques. We need to consider which patients are more likely to receive a...
Newborn measles antibody profile in a teaching hospital: Can sex of babies determine measles IgG acquisition from their respective mothers? [0.03%]
教学医院新生儿麻疹抗体概览：婴儿的性别能否决定从各自母亲处获得麻疹IgG？
Baba Usman Ahmadu,Mava Yakubu,Ibrahim Bello Abdullahi et al.
Baba Usman Ahmadu et al.
Known sex specific differences in fetal, neonatal morbidity and mortality have been documented. Sex differences also exist in birth-weight centile with males being larger than females at birth. However, these sex differences are not fully e...
James K Hartsfield,Lorri A Morford,Liliana M Otero et al.
James K Hartsfield et al.
Just as pediatricians and endocrinologists are interested in understanding statural growth patterns and the prediction of adult height, pediatric dentists, orthodontists, and oral/maxillofacial surgeons need to be knowledgeable about a pati...
Application of real-time polymerase chain reaction in the clinical genetic practice [0.03%]
实时聚合酶链反应在临床遗传学实践中的应用
Bálint Nagy
Bálint Nagy
The development of polymerase chain reaction revolutionized the molecular genetics and diagnostics. Technical improvements helped to make more specific and sensitive target determinations. Introduction of real-time polymerase chain reaction...
Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication [0.03%]
6号染色体短臂末端缺失/5号染色体短臂远端重复复合体综合征的脑白质斑虎样异常模式
Meena Balasubramanian,Kath Smith,Steve Williams et al.
Meena Balasubramanian et al.
Sub-telomeric deletions of the short arm of chromosome 6 are a well-described clinical entity characterized by developmental impairment, hypotonia, eye abnormalities and defects in the heart and kidneys. Chromosome 5p terminal duplication i...
A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis [0.03%]
羊水穿刺检查发现完全四倍体而脐带血穿刺染色体正常的病例报告
Mahmut Balkan,Mehmet Fidanboy,Hilmi İsi et al.
Mahmut Balkan et al.
We report a case of complete tetraploidy in amniotic fluid culture obtained at 17 wk of pregnancy. Amniocentesis was performed in this pregnancy because of a high-risk maternal serum screening result and abnormal ultrasound findings. Amniot...
Mahmut Balkan,Mehmet Fidanboy,M Nuri Özbek et al.
Mahmut Balkan et al.
We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the c...
Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or abnormal splitting of the embryo? [0.03%]
肢体壁复合征的病例：早期羊膜破裂、血管断裂还是胚胎异常分裂？
Frank Crespo,Halit Pinar,Stefan Kostadinov
Frank Crespo
We report two cases of limb-body wall complex (LBWC), also known as body stalk anomaly, a rare form of body wall defect incompatible with life. The first case was identified during a level II ultrasound examination performed at 7 wk gestati...