Doble aneuploidía: síndromes de Klinefelter y Edwards (48,XXY,+18). Reporte de caso

Abstract

RESUMENLa existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards. Palabras clave: doble aneuploidía, síndrome de Klinefelter, trisomía 18, fenotipo, cariotipo. ABSTRACTThe co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.

Incidence and Types of Chromosomal Abnormalities in First Trimester Spontaneous Miscarriages: a Greek Single-Center Prospective Study

“…The proportion of double trisomies in early fetal loss has been reported to range from 0.2% to 4.6%, and a total of only 444 cases have been reported in the literature (20). Additionally, while the occurrence of double aneuploidy in liveborn neonates is relatively rare, however, the combination of Edwards and Klinefelter syndromes is extremely rare, with only 15 cases reported in the literature (21). No case of Edwards and Klinefelter coexis-InvestIgatIon of Chromosomal abnormalItIes In mIsCarrIages tence in products of conception after spontaneous abortions has been reported in large studies (13,20).…”