Double Aneuploidy: Klinefelter and Edwards Syndromes (48,XXY,+18)

Abstract

Introduction: Double aneuploidy is a rare cytogenetic abnormality resulting from non-disjunction in meiosis I or meiosis II, typically involving sex chromosomes and acrocentric chromosomes. Most double aneuploidies involve chromosome 21, among which, the coexistence of Trisomy 18 and Klinefelter Syndrome (47,XXY) is the least common. Clinical manifestations involve both conditions, but with significant clinical heterogeneity and correlation with the age of presentation of characteristics. In Klinefelter and Edwards Syndromes, clinical presentations compatible with Trisomy 18 are described.

Objective: To describe the clinical manifestations in a patient with double aneuploidy (Klinefelter and Edwards Syndromes).

Methodology: Genetic clinical evaluation of the patient, karyotype analysis in peripheral blood, multidisciplinary assessment.

Results: Male, 6 weeks of age, with a history of intrauterine growth restriction, low birth weight (2070g), respiratory distress syndrome, congenital heart disease (VSD, pulmonary stenosis), bilateral hydronephrosis, a phenotype compatible with Edwards Syndrome (low stature, microcephaly, prominent occiput, low-set ears, oblique and down-slanting palpebral fissures, syndactyly, overlapping fingers of hands, bilateral clubfoot). Karyotype: 48,XXY,+18, compatible with double aneuploidy Klinefelter and Edwards Syndromes.

Conclusions: Double aneuploidy involving Klinefelter and Edwards Syndromes presents predominantly with clinical features compatible with Edwards Syndrome, with a poor prognosis, requiring individualized multidisciplinary management and supportive palliative care.