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Expanding the Clinical Phenotype of Sexual Chromosome Aneuploidies: Description of Cases Detected by Newborn Screening

Iris Gisell Tirado- Torres, Isabel Moreno- Vega, Marisol Ibarra- Ramírez, Luis Daniel Campos- Acevedo, José Lugo- Trampe, Alejandra Villarreal- Martínez, Gabriela Elizondo Cárdenas, Laura E. Martínez-de- Villarreal


Aim: Sex chromosome aneuploidies (SCA) are the most common chromosome aberrations in humans, their clinical recognition at birth is challenging and so underdiagnosed. We describe the clinical features of patients detected by newborn screening for SCA, to provide new findings that help clinicians suspect these disorders. Subjects and Methods: This is a transverse descriptive study of infants identified through a newborn screening pilot study for SCA in two Mexican public hospitals in Monterrey, N.L., and referred to Genetics Department for karyotyping. Seventeen patients with a diagnosed SCA were examined by a clinical geneticist. Results: Triple X Syndrome patients (3) had epicanthus and low nasal root in 100%, pre-auricular pits or tags, dysmorphic earlobes and hyper-pigmented macules in 66%. Four out of the five patients with Turner Syndrome presented mosaicism and the most frequent features were pigmented skin defects (80%), telecanthus and/or epicanthus (60%) congenital heart defects, hands or feet edema, posterior low hairline and high palate (40%). Klinefelter Syndrome patients (5), showed telecanthus or epicanthus (60%); and in 40% bilateral fifth finger clinodactyly or hypospadias was found. All patients with XYY Syndrome (4) had hypertelorism and 75% micropenis. Conclusions: Patients with SCA showed traits that most of the time are unnoticed or identified as normal variants. In this study we found that minor traits, such as the micropenis, which had not previously been reported as part of the XYY syndrome could underlie a sex chromosome anomaly, this grants particular importance to a detailed examination of newborns by health personnel. 

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