Partial trisomy of chromosome 21 without the Down syndrome phenotype

Mei-Tsz Su, Long Ching Kuan, Yen-Yin Chou, Shang Yi Tan, Tsung Cheng Kuo, Pao-Lin Kuo

研究成果: Letter

7 引文 (Scopus)

摘要

What's Already Known About This Topic? Down syndrome (DS) is a common disorder associated with several complex clinical phenotypes. It is unclear as to whether particular loci on chromosome 21 are sufficient to cause DS and its associated features. What's Already Known About This Topic? We reported two prenatally detected cases of partial trisomy 21, and both were inherited from their healthy mothers and without DS phenotypes. These two segments of partial trisomy 21 may suggest copy number variants or minor phenotypes with variable penetrance in the regions of chromosome 21. Oligonucleotide-based array comparative genomic hybridization can be helpful in mapping high-resolution segments of chromosome 21, and narrowing down the DS critical region.

原文English
頁(從 - 到)492-495
頁數4
期刊Prenatal Diagnosis
36
發行號5
DOIs
出版狀態Published - 2016 五月 1

指紋

Chromosomes, Human, Pair 21
Trisomy
Down Syndrome
Phenotype
Comparative Genomic Hybridization
Penetrance
Oligonucleotide Array Sequence Analysis

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Genetics(clinical)

引用此文

Su, Mei-Tsz ; Kuan, Long Ching ; Chou, Yen-Yin ; Tan, Shang Yi ; Kuo, Tsung Cheng ; Kuo, Pao-Lin. / Partial trisomy of chromosome 21 without the Down syndrome phenotype. 於: Prenatal Diagnosis. 2016 ; 卷 36, 編號 5. 頁 492-495.
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Partial trisomy of chromosome 21 without the Down syndrome phenotype. / Su, Mei-Tsz; Kuan, Long Ching; Chou, Yen-Yin; Tan, Shang Yi; Kuo, Tsung Cheng; Kuo, Pao-Lin.

於: Prenatal Diagnosis, 卷 36, 編號 5, 01.05.2016, p. 492-495.

研究成果: Letter

TY - JOUR

T1 - Partial trisomy of chromosome 21 without the Down syndrome phenotype

AU - Su, Mei-Tsz

AU - Kuan, Long Ching

AU - Chou, Yen-Yin

AU - Tan, Shang Yi

AU - Kuo, Tsung Cheng

AU - Kuo, Pao-Lin

PY - 2016/5/1

Y1 - 2016/5/1

N2 - What's Already Known About This Topic? Down syndrome (DS) is a common disorder associated with several complex clinical phenotypes. It is unclear as to whether particular loci on chromosome 21 are sufficient to cause DS and its associated features. What's Already Known About This Topic? We reported two prenatally detected cases of partial trisomy 21, and both were inherited from their healthy mothers and without DS phenotypes. These two segments of partial trisomy 21 may suggest copy number variants or minor phenotypes with variable penetrance in the regions of chromosome 21. Oligonucleotide-based array comparative genomic hybridization can be helpful in mapping high-resolution segments of chromosome 21, and narrowing down the DS critical region.

AB - What's Already Known About This Topic? Down syndrome (DS) is a common disorder associated with several complex clinical phenotypes. It is unclear as to whether particular loci on chromosome 21 are sufficient to cause DS and its associated features. What's Already Known About This Topic? We reported two prenatally detected cases of partial trisomy 21, and both were inherited from their healthy mothers and without DS phenotypes. These two segments of partial trisomy 21 may suggest copy number variants or minor phenotypes with variable penetrance in the regions of chromosome 21. Oligonucleotide-based array comparative genomic hybridization can be helpful in mapping high-resolution segments of chromosome 21, and narrowing down the DS critical region.

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