Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Double aneuploidy is the co-occurrence of two different chromosomes within same individual. Genomic imbalance associated with aneuploidies in humans early lethality, and observation live-born rare. In isolation, trisomy 13, 18, 21, X, Y may be better tolerated, whereas monosomy X only such type aberration that compatible life. It hypothesized successive malsegregation events must occur development to observed constitutionally. Mechanisms like rescue or selection against result mosaicism promote subsequent survival individuals, depending on involved. From literature, double rare, (acrocentric) autosomal gonosomal more common than aneuploidy. A retrospective case study patients who underwent routine postnatal cytogenetic testing at The Johns Hopkins Hospital (JHH) Cytogenomics Laboratory (from its inception 1960s-present) was carried out identify mosaic and/or non-mosaic forms One each [Klinefelter Edwards Syndrome] Down identified. No cases females nor trisomies were identified individuals JHH Laboratory. Given advancements non-invasive prenatal screening for aneuploidies, need diagnostic confirmation studies persists. Providers should aware possibility detection pregnancies bearing (common rare) when maternal malignancy not suspected. Additionally, clinicians consider rare situations atypical blended phenotypes reminiscent dual diagnoses. Further work needed compile these even rarer improve genotype-phenotype correlations.