4.6 Article

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Failure to recombine is a common feature of human oogenesis

Terry Hassold et al.

Summary: Failure of homologous chromosomes to recombine is a significant cause of human meiotic nondisjunction, particularly in maternal origin trisomies. Studies have found high levels of recombination failure in fetal ovarian samples, with a preponderance of MLH1-less homologs involving chromosomes 21 or 22. The presence of exchangeless chromosomes in cells is associated with a reduction in the total number of crossovers, indicating individuals with lower rates of meiotic recombination may be at increased risk of producing aneuploid offspring.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

Article Biochemistry & Molecular Biology

Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations

Sarah Correll-Tash et al.

HUMAN MOLECULAR GENETICS (2020)

Article Biochemistry & Molecular Biology

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Wolfram Demaerel et al.

GENOME RESEARCH (2019)

Article Genetics & Heredity

22q and two: 22q11.2 deletion syndrome and coexisting conditions

Jennifer L. Cohen et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Genetics & Heredity

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati et al.

PRENATAL DIAGNOSIS (2015)

Article Medicine, General & Internal

22q11.2 deletion syndrome

Donna M. McDonald-McGinn et al.

NATURE REVIEWS DISEASE PRIMERS (2015)

Article Medicine, General & Internal

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Genetics & Heredity

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 Syndrome): Clinical Features of 63 Individuals

Melissa T. Carter et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Biochemistry & Molecular Biology

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

H Kurahashi et al.

HUMAN MOLECULAR GENETICS (2000)