Next Article in Journal
LncRNA HULC and miR-122 Expression Pattern in HCC-Related HCV Egyptian Patients
Next Article in Special Issue
The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1H-MRS and 18F-Fallypride PET Study
Previous Article in Journal
A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
Previous Article in Special Issue
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 13
Issue 9
10.3390/genes13091668
Review Report
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
Article
Peer-Review Record

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

Genes 2022, 13(9), 1668; https://doi.org/10.3390/genes13091668
by Steven Pastor 1,*, Oanh Tran 2, Daniel E. McGinn 2,3, T. Blaine Crowley 2, Elaine H. Zackai 2,3, Donna M. McDonald-McGinn 2,3 and Beverly S. Emanuel 2,3
Reviewer 1:
Thomas Liehr
Reviewer 2: Anonymous
Genes 2022, 13(9), 1668; https://doi.org/10.3390/genes13091668
Submission received: 25 August 2022 / Revised: 31 August 2022 / Accepted: 14 September 2022 / Published: 17 September 2022
(This article belongs to the Special Issue 22q11.2 Deletion Syndrome)

Round 1

Reviewer 1 Report

paper is well done and should be accepted as it is

 

this case is important to be publsihed, as it is the first case reporting a del(22)(q11.2q11.2) due to a t(11;22) in the father.

The case was in deapth studied and the way study was performed and results are presented is perfect.

Also discussion covers all necessary topics.

I have no further comments - paper is well done, presents something new and is adding new insights into t(11;22) as well as del(22)(q11.2q11.2) syndrome

 

 

 

 

Author Response

We thank you for taking the time to review our paper!

Reviewer 2 Report

This is an interesting article.

Please arrange the keywords alphabetically

Some words like SCID need to be written severe combined immune deficiency

 

The format: English language and style are fine statement. The introduction provides sufficient background  The research design is appropriate The methods are adequately described The results and discussion are clearly presented The conclusions is supported by the results Only 2 things are required please arrange the keywords alphabetically and some words like SCID need to be written as severe combined immune deficiency    

 

 

Author Response

We thank you for taking the time to review our paper. We have made the edits you suggested: 1. we alphabetized the keywords and 2. we made sure all instances of acronyms/initialisms are defined where needed. Thanks!

Back to TopTop