Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism
Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism
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DOI：
10.1016/j.ejmg.2005.08.004
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发表时间：
2006-07-01
影响因子：
1.9
通讯作者：
Houge, Gunnar
中科院分区：
文献类型：
--
作者：
Gradek, Gyri Aasland;Kvistad, Per Helge;Houge, Gunnar
描述了一名患有46，XYr（8）/46，XY嵌合体的男性从幼儿期到成年期的精神和躯体发育。8号环状染色体G带长度正常，但FISH和CGH检测到8 q和8 p末端缺失。通过STR标记分析，8 p缺失被证明是相当大的，至少6.74 Mb，而8 q缺失是小的，约2.5 Mb。单倍型分析还表明，r（8）起源于母亲的8号染色体，具有正常男性核型的细胞是由于8号环丢失后的8号单体拯救，即父亲8号染色体的有丝分裂复制。与其他8号环状染色体患者相比，该患者具有轻度表型，无畸形和轻度智力迟钝。在过去的20年里，他的临床状况一直保持稳定。(c)2005年，Elsevier SAS。All rights reserved.
The psychomotor and somatic development from early childhood into adult life is described in a man with 46,XYr(8)/46,XY mosaicism. The ring chromosome 8 appeared to be of normal length on G-banding, but terminal deletions on 8q and 8p were detected with FISH and CGH. By STR marker analysis the 8p deletion proved to be quite large, at least 6.74 Mb, while the 8q deletion was small, around 2.5 Mb. The haplotype analysis also demonstrated that the r(8) originated from a maternal chromosome 8, and that cells with normal male karyotype resulted from monosomy 8 rescue after loss of the ring 8, i.e. a mitotic duplication of the paternal chromosome 8. The patient has a mild phenotype with no malformations and mild mental retardation, also compared to other ring chromosome 8 patients. His clinical condition has remained stable for the last 20 years. (c) 2005 Elsevier SAS. All rights reserved.