Created by: erkaufman
Number of Blossarys: 1
English (EN)
其中中期染色体都沾上，一个进程排序和按形态、 大小、 臂长度比率和色带图案进行编号。可以执行的样本，血液、 骨髓、 羊水或胎盘组织。用于诊断染色体不平衡 （例如，常染色体显性遗传性的合子，性染色体疾病。 ...
Niet alle individuen met een mutant genotype zal tonen het mutant fenotype. Voorbeeld: BRCA1 genmutaties niet altijd resulteren in borst- of eierstokkanker.
One gene contributes to multiple phenotypic effects. Example: PKU causes many seemingly unrelated symptoms, ranging from mental retardation to hair/skin changes.
Not all individuals with a mutant genotype will show the mutant phenotype. Example: BRCA1 gene mutations do not always result in breast or ovarian cancer.
Phenotype varies among individuals with the same genotype. Example: 2 patients with neurofibromatosis type 1 (NF1) may have varying disease severity.
Both alleles contribute to the phenotype in a heterozygote. Example: blood groups A, B, AB.
Fluorescent DNA or RNA probe binds to specific gene site of interest on chromosomes. Used for specific localization of genes and direct visualization of anomalies (e.g., microdeletions) at molecular ...
