Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome

Review Data

Q: Is the topic relevant to the journal's area of interest? Is it contemporary and interesting for

researchers?

A: Good

Abstract & Keywords

Q: Are all required components included in the abstract? Are the keywords appropriately chosen?

A: Good

Goal

Q: Is the goal explicitly stated in the Introduction? Is its formulation clear and unambiguous?

A: Good

Structure

Q: Is the paper's structure coherent? Is it in coherence with the goal of the paper?

A: Good

Tools and Methods

Q: Are the methods the author uses adequate and well used?

A: Good

Discussion & Conclusion

Q: Is it related to the results presented before? Do you consider them as coherent?

A: Good

Comments: The Discussion provides an overview of the Simpson-Golabi-Behmel Syndrome (SGBS), followed by the features carried by the female carriers. It also illustrates the alterations in the gene expression of the X-chromosome among females. The Conclusion describes the case as the rare female variant of SGBS with bilateral Wilms’ tumor. Lastly, the author suggests that severely skewed X-inactivation is an unusual mechanism for the full expression of x-linked genetic disorders in females.

Literature

Q: Does the author utilize relevant literature?

A: Good

Author's knowledge

Q: What is the level of the author’s knowledge? Does the author utilize all recent contributions relevant to the topic?

A: Good

Length

Q: Is the paper's length adequate to the topic's significance? Do you suggest shortening the paper without losing its value?

A: Good

Figures & Tables

Q: Does the author use them suitably? Are legend and notations clear?

A: Good

Writing style

Q: Is it clear and understandable?

A: Good

Further comments on the paper

Comments: The Case Report presents a 20-month-old female with a palpable abdominal mass. Later the imaging revealed Wilms’ tumor in the setting of Simpson-Golabi-Behmel Syndrome. The patient was found to have a de novo deletion in the X-chromosome followed by highly skewed X-inactivation. Further, the case report highlights the implication of X-linked recessive disease identification in female patients.

Q: Would you recommend this manuscript for further publication?

A: Yes - Suitable to be published

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Science Repository Team