一名早夭婴儿中因父亲的t(6;22)(q25.3;p12)导致6号染色体短臂出现一条缺失且带有随体的衍生染色体6。
A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.
作者信息
Domínguez María Guadalupe, Rivera Horacio, Dávalos-Pulido Rosa María, Dávalos-Rodríguez Ingrid Patricia
机构信息
División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, México.
Doctorado en Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, México.
出版信息
J Clin Lab Anal. 2020 Aug;34(8):e23355. doi: 10.1002/jcla.23355. Epub 2020 May 12.
BACKGROUND
Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known.
CASE PRESENTATION
A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.3. She had a paternal derivative satellited 6q of a t(6;22)(q25.3;p12)pat entailing a 6q terminal deletion, karyotype 46,XX,der(6)t(6;22)(q25.3;p12)pat [16].ish del 6q subtel-.
CONCLUSION
Male and female carriers of reciprocal translocations or insertions between chromosome 6 and the short arm of any acrocentric have few unbalanced offspring mostly by adjacent-1 segregation. In addition, spontaneous abortions or male infertility was present in 7/13 instances of satellited chromosome 6.
背景
非近端着丝粒随体染色体大多源于家族性平衡插入或与任何近端着丝粒染色体的 p12 或 p13 发生易位。尽管所有非近端着丝粒染色体都有涉及，但已知仅有 12 例涉及 6 号染色体。
病例报告
一名女婴表现出典型的 6qter 缺失临床特征，还伴有全身性多毛症和连眉，这些特征在 6q25.3 处 ARID1B 基因存在类似失衡或单倍体不足的患者中很少报道。她有一条来自父亲的衍生随体 6q，是 t(6;22)(q25.3;p12)pat，导致 6q 末端缺失，核型为 46,XX,der(6)t(6;22)(q25.3;p12)pat [16]。ish del 6q subtel-。
结论
6 号染色体与任何近端着丝粒染色体短臂之间相互易位或插入的男性和女性携带者，大多通过邻位-1 分离产生少数不平衡后代。此外，在 13 例随体 6 号染色体病例中，有 7 例出现自然流产或男性不育。
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