Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

被引:11
作者
Boyd, LJ
Livingston, JS
Brown, MG
Lawce, HJ
Gilhooly, JT
Wildin, RS
Linck, LM
Magenis, RE
Pillers, DAM
机构
[1] Oregon Hlth Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA
[2] Oregon Hlth Sci Univ, Sch Med, Portland, OR 97239 USA
[3] Oregon Hlth Sci Univ, Dept Pediat, Portland, OR 97201 USA
[4] Kaiser Permanente NW, KPNW Genet, Portland, OR USA
[5] Oregon Hlth Sci Univ, Dept Ophthalmol, Portland, OR 97201 USA
关键词
chromosome stalk; nucleolar organizing region (NOR); chromosome; 22q; partial trisomy; pericentric inversion; duplication;
D O I
10.1002/ajmg.a.30895
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to occur in the stalk regions of acrocentric chromosomes. We describe a child whose chromosome analysis suggests that crossovers do occur in homologous stalk regions. The proband, initially seen as a term female infant, was born to a 28-year-old mother. Dysmorphic features included wide metopic sutures, low anterior hairline, hypertelorism, external ear malformations, and cleft lip and palate. Blood chromosomes of the proband and parents were studied by G-banding, Q-banding, R-banding, and silver staining. The infant karyotype showed a submetacentric chromosome 22; that of the mother showed a pericentric inversion of chromosome 22. Chromosomes of the father were normal. In the infant, the abnormal chromosome 22 long arm appeared normal, but with additional long arm material attached to the distal short arm. In the mother, the distal long arm of the abnormal chromosome 22 was translocated to the distal short arm. The abnormal chromosome stalk in the child was intermediate in size to the stalk size of the abnormal and normal chromosomes 22 in the mother. Fluorescent in situ hybridization (FISH) analysis using chromosome 22 paint and ARSA gene probe confirmed that the duplicated material in the proband was of chromosome 22 origin; the karyotype interpretation is: 46,XX,rec(22)dup(22q)inv(22)(p13q13.1)mat. This abnormal karyotype is most likely due to a crossover event within the inversion loop during meiosis. The stalk length discrepancy suggests that the crossover site occurred in the stalk region. 0 2005 Wiley-Liss, Inc.
引用
收藏
页码:355 / 360
页数:6
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