Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

被引：2

作者：

Su, Meng ^{[1
]}

Benke, Paul J. ^{[2
,3
]}

Bademci, Guney ^{[4
]}

Cengiz, Filiz Basak ^{[4
]}

Ouyang, Xiaomei ^{[1
]}

Peng, Jinghong ^{[1
]}

Casas, Carmen E. ^{[1
]}

Tekin, Mustafa ^{[4
]}

Fan, Yao-Shan ^{[1
]}

机构：

[1] Univ Miami, Miller Sch Med, Dept Pathol & Lab Med, 1601 NW 12th Ave, Miami, FL 33136 USA

[2] Joe DiMaggio Childrens Hosp, Dept Genet, 1150 N 35th Ave, Hollywood, FL 33021 USA

[3] Charles E Schmidt Coll Med, 1150 N 35th Ave, Hollywood, FL 33021 USA

[4] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, 1501 NW 10th Ave, Miami, FL 33136 USA

来源：

MOLECULAR CYTOGENETICS | 2018年 / 11卷

关键词：

Chromosome; 21; Partial monosomy; Deletion; Duplication; Partial uniparental disomy; DEVELOPMENTAL DELAY; DYSMORPHIC FEATURES; PARTIAL TRISOMY; ARRAY-CGH; 21Q; PATIENT; TRANSLOCATION; PHENOTYPE; CHILD; FISH;

D O I：

10.1186/s13039-018-0390-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. Case presentation: We report a 10-month-old boy with short stature, minor anomalies and mild motor delay. The patient had a monosomy 21 and duplication of the 21q22.11q22.3 region on the remaining derivative chromosome 21 which represents a partial 21q uniparental disomy of paternal origin, upd(21q22.11q22.3) pat. The abnormalities were characterized by karyotyping, FISH, chromosomal microarray, and genotyping. Conclusions: This is the first case showing a monosomy 21 compensated by upd(21q22.11q22.3) as a mechanism of genomic rescue. Because there is no strong evidence showing imprinting on chromosome 21, the uniparental disomy itself is not associated with abnormal phenotype but has reduced phenotype severity of monosomy 21. We reviewed the previously published cases with isolated 21q deletions and identified a common deletion of 5.7 Mb associated with low birth weight, length and head circumference in the 21q21.2 region.

引用

页数：6