Double aneuploidy involving trisomy 7 with Potter sequence

Bırı, Aydan; Karaoğuz, Meral Yirmibeş; İnce, Gönül Didem; Ergün, Mehmet Ali; Menevşe, Sevda; Bingöl, Banu

doi:10.1016/j.ejmg.2005.01.006

Cited by 1 publication

(1 citation statement)

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“…Autosomal double trisomies are rarely reported in liveborn infants and the reported cases of double aneuploidy mostly involve autosomal trisomy and sex chromosome trisomy (1,8). Most double aneuploidies are associated with increased maternal age, an abnormal sonogram, and early pregnancy loss (1).…”

Section: Introductionmentioning

confidence: 99%

First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) – Possible Causes and Contributing Factors

Batinović

Cherepnalkovski

Lozić

et al. 2023

Acta Med. (Hradec Kralove, Czech Repub.)

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We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double aneuploidy in Croatia. This paper provides a detailed description of the clinical presentation and treatment strategies used, with the aim of providing valuable data for future recognition and management of similar cases. Furthermore, we discuss the mechanisms of nondisjunction that might account for this rare form of aneuploidy.

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Section: Introductionmentioning

confidence: 99%