Translocation-specific polymerase chain reaction (PCR) detects de novo t(11;22)s in sperm from normal healthy males. We established a t(11;22)-specific PCR system utilizing sequence data from the junction fragments. PATRR-flanking primers were designed both on 11q23 and 22q11 to amplify the der(11) and the der(22) junction fragments .

The t(11;22)(q23;q11) translocation is the most common recurrent balanced translocation described in humans. Carriers are phenotypically normal and often go undetected until diagnosis as a result of infertility investigations or following the birth of chromosomally unbalanced offspring.

2000年6月12日 · The t(11;22) is the most common recurrent non-Robertsonian constitutional translocation in humans, having been reported in more than 160 unrelated families. Balanced carriers are at risk of having offspring with the derivative 22 syndrome owing to 3:1 meiotic non-disjunction event.

回顾性分析临床上t(11；22)相互易位核型分布及其携带者的临床特征，为t(11；22)相互易位核型携带者提供遗传咨询和合理的辅助生育意见。 方法 分析2014年1月-2019年9月临床上t(11；22)相互易位核型的分布情况和临床特征，并对1例进行纳米孔测序与断裂点分析。

2022年12月19日 · 2004年，Emanuel 综合征是以费城细胞遗传学家贝弗利·伊曼纽尔博士 (Dr Beverly Emanuel)的名字命名的，又称额外der (22)t (11;22)染色体综合征。 Emanuel 综合征发病率约为1/110 000。 迄今为止，全球已报道100余例。 + der (22)t (11;22)外显率为100%。 绝多数Emanuel 综合征是由 t (11;22) (q23;q11.2)易位携带者 配子发生过程中的异常减数分裂导致，t (11; 22) (q23; q11)是人类 最常见的复发性 非罗氏易位性染色体 ，其后代有 10% 风险为 Emanuel …

The constitutional t (11;22) (q23;q11) is the most common recurrent non-Robertsonian translocation in humans. The breakpoint sequences of both chromosomes are characterized by several hundred base pairs of palindromic AT-rich repeats (PATRRs).

2010年2月24日 · Here, we have studied eight cases of de novo t (11;22) to determine the parental origin of the translocation using the polymorphisms on the relevant PATRRs. All of the eight translocations were...

The constitutional t(11;22) translocation is the only known recurrent non-Robertsonian translocation in humans. Offspring are susceptible to der(22) syndrome, a severe congenital anomaly disorder caused by 3:1 meiotic nondisjunction events. We ...

The t(11;22)(q23;q11) translocation is the most common recurrent balanced translocation described in humans. Carriers are phenotypically normal and often go undetected until diagnosis as a result of infertility investigations or following the birth of chromosomally unbalanced offspring.

Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the …