单亲母源X染色体四体与父源不分离的共现：48,XXXX起源的研究。

Shimojima Yamamoto Keiko, Yamamoto Sakurako, Imaizumi Taichi, Kumada Satoko, Yamamoto Toshiyuki

Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

Hum Genome Var. 2024 Aug 16;11(1):31. doi: 10.1038/s41439-024-00289-6.

Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.

X染色体四体或48,XXXX是一种罕见的性染色体非整倍体。对一名发育迟缓女性患者的X染色体四体的亲本来源进行了分析；所有四条X染色体均来自母亲，不存在父源的性染色体。这一发现表明，母源和父源不分离或多体拯救罕见地同时发生。为作比较，对与男性发育迟缓相关的48,XXYY的机制进行了分析。