OBJECTIVE: To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation. METHODS: The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out. RESULTS: Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR. CONCLUSION Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.

Skin flaps are frequently employed in plastic and reconstructive surgery to address tissue defects.However,their low survival rates remain a challenge,attributed to vascular crisis and necrosis.Despite numerous studies investigating drugs to alleviate flap necrosis,a comprehensive analysis of the research trend in this critical area is lacking.To gain a deeper understanding of the current status,research focal points,and future trends in drugs aimed at enhancing flap survival,a thorough retrospective analysis is imperative.This study aims to employ bibliometric methods to scrutinize the evolution,mechanisms,and forthcoming trends of drugs targeting flap survival improvement.Using VOSviewer software,we quantitatively and visually depict 1)annual temporal trends in the number of documents and citations;2)national/regional publications and their collaborations;3)institutional and authors'contribution;4)journal contribution and relevance;and 5)analysis of research hotspots and directions derived from keywords.Ultimately,we discussed the prospects and challenges of future advances and clinical trans-lation of drugs designed to enhance skin flap survival.In conclusion,the field of pharmacology dedicated to improving skin flap survival is expanding,and this study aims to offer a fresh perspective to promote the advancement and clinical application of such drugs.