ArticleTranslational pediatrics2023
The timely diagnosis of 49, XXXXY with the combined detection of MLPA, karyotype, and QF-PCR in a newborn with multiple congenital malformations: a case report.
Article in Translational pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Neonatal Presentation of 49,XXXXY (Fraccaro) Syndrome with Ventriculomegaly: Expanding the Early Neuroimaging Phenotype.Pediatric reports · 2026Article
- 49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
9 authors.
Funding
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Abstract
Background: 49, XXXXY is a rare sex chromosomal aneuploidy syndrome. The patients usually are diagnosed several months or years after birth. Herein a neonate with respiratory distress and multiple malformations was diagnosed with 49, XXXXY syndrome by an economical method of multiplex ligation-dependent probe amplification (MLPA) followed karyotype analysis. Case Description: An infant was born via spontaneous vaginal delivery at 41 Conclusions: The presentation of the 49, XXXXY newborn was atypical, they may only include low birth weight, multiple malformations and a characteristic facial appearance which were consistent with the characteristics of autosomal and sex chromosome aneuploidies. At this time, the economical and rapid method of MLPA to screen the number of chromosome, and then choose the appropriate means to make the final diagnosis and improve the quality of life of patients with timely therapy.
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