RECOMBINANT CHROMOSOME-9 POSSIBLY DERIVED FROM BREAKAGE AND REUNION OF SISTER CHROMATIDS WITHIN A PARACENTRIC INVERSION LOOP

被引：20

作者：

PHELAN, MC ^{[1
]}

STEVENSON, RE ^{[1
]}

ANDERSON, EV ^{[1
]}

机构：

[1] CHRISTIE PEDIAT GRP,GREENVILLE,SC

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 03期

关键词：

MEIOTIC CROSSOVER; PARACENTRIC INVERSION; INVERSION HETEROZYGOTE;

D O I：

10.1002/ajmg.1320460313

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chromosomally unbalanced offspring resulting from the recombination of parental paracentric inversions are uncommon. We report on a 20-month-old boy with a partial duplication of 9p due to the recombination of a paternal paracentric inversion. The patient's recombinant chromosome was designated rec(9)(p13-->p24::p12-->p24::p12-->qter). The patient's father and paternal aunt have a paracentric inversion of chromosome 9: inv(9)(p13p24). Although several mechanisms have been proposed to explain the chromosome imbalance generated from paracentric inversions, none of the previously described mechanisms can account for the structure of the recombinant chromosome observed in the propositus. We propose an unusual mechanism of formation involving breakage and unequal reunion of sister chromatids within the inversion loop to explain the structure of the patient's recombinant chromosome.

引用

页码：304 / 308

页数：5

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