Author's response to reviews Title:A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with a Silver-Russell-like phenotype and growth hormone deficiency: a twelve-year follow-up and literature review Authors:
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چکیده
Deletions on the long arm of chromosome 6 are relatively uncommon, and only a small number occur on the paternal copy, causing growth deficit. This sentence can be misleading. The Authors refer only to the distal portion of 6q. We thank the Reviewer for the suggestion. We have changed this phrases as for Reviewer suggestion and we hope that it is now not misleading. Birth weight was 1740 gr (-1.6 SDS), the length was 43.5 cm (-1.1 SDS), and the head circumference was 32.2 cm (0.0 SDS). At the age of 3.75 years, his height was 88.2 cm (-2.98 SDS), weight 11.500 kg (-3.34 SDS), and his body mass index was 14.78 (-0.81 SDS). Please delete these sentences from Abstract. We thank the Reviewer for this suggestion. We have deleted these informations as for the Reviewers suggestions. Figure 1 The facial phenotype is not well shown with the bars over the eyes, so the similarities with the reported cases cannot be well judged. We thank for the Reviewer suggestion. We have sent new photos with reduced bars over the eyes. We hope that the phenotypes may be better evaluated. Minor Essential Revisions Mental retardation should read intellectual disability. We are sorry for the mistake.. we have corrected these terms as for Reviewer suggestion. Case presentation “Prenatal ultrasounds ... paternal disomy.” Please move this para before “His birth was...” We thanks the Reviewer for the suggestion. We have rephrased the text as for reviewer suggestion. Was cardiomegaly followed postnatally? The cardiomegaly was not confirmed postnatally. We have added this information in the text (page 5 line 12). Satellite analysis of chromosomes 2, 11, and 16 showed biparental inheritance, The Authors probably mean microsatellite analysis. We are sorry for the mistake. We have corrected the term as for Reviewer suggestion. At 2 years of age, he underwent a left inguinal herniotomy. What about the right hernia? We are sorry for the mistake. We have corrected the text. The herniotmy was bilateral (page 6, lines 2-3). Figure 2 is poorly explained in its legend. I suggest showing a schematic representation of this chromosomal region with other reported overlapping deletions depicted. Also, please provide the deletion coordinates in the text or figure legend. It is unclear whether PLAGL1 is deleted in the patient. We are sorry for this aspect. We have added in the text a specific Genetic analysis section. we have renamed Figure 2 (now Figure 3) and we have added in the figure 3 also the array CGH analysis with high resolution (figure 3b). Figure 3 should be moved to Supplement. We thank the Reviewer for the suggestion. We have moved the figure 3 (now Figure 4) in the supplement. Discretionary revisions Abstract Kumar and Nowaczyk should read Kumar et al. [13] and Nowaczyk et al. [14] We thank the Rewiever for the suggestion. We have corrected the text as for reviewer suggestion. Case presentation 1740 gr Change to 1740 g We thank the Rewiever for the suggestion. We have corrected the text as for reviewer suggestion.
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تاریخ انتشار 2015