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A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations
TLDR
This case represents the first constitutional balanced translocation disrupting and fusing both genes and provides clues for the potential function and effects of these in the central nervous system.
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A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma
TLDR
The genetic delineation of the present sSMC further strengthens that the CES clinical presentation does not fit completely with the duplicated genetic content and that CES is actually a genomic disorder.
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Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion
Complex 9p Rearrangement in an XY Patient With Ambiguous Genitalia and Features of Both 9p Duplication and Deletion Vivian Alejandra Neira, Carlos C ordova-Fletes,* Yohann Grondin, Azubel…
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Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.
TLDR
This is one of the few cases reported with terminal translocations (not jumping) preserving the subtelomersic region and highlights the importance of subtelomeric probes in terminal arrangements, and the utility of molecular probes, such as MLPA in defining this kind of abnormalities.
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De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances
TLDR
Present address: Departamento de Ciencias Médicas, CUCOSTA, Universidad de Guadalajara, Puerto Vallarta, Mexico.
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De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.
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Role of Self-Sampling for Cervical Cancer Screening: Diagnostic Test Properties of Three Tests for the Diagnosis of HPV in Rural Communities of Cuenca, Ecuador
TLDR
Vaginal and urine self-sampling methods have similar sensitivity and specificity compared with clinician sampling for the diagnosis of HPV and the correlation between HPV genotypes among the three tests is satisfactory.
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Frequency of sexually transmitted infections in asymptomatic women in an urban-peripheral population of Cuenca, Ecuador
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Perceptions of Self Sampling and Urine Sampling Versus Traditional Pap Smear in Rural Settings of Cuenca Ecuador
TLDR
This study shows that women consider self sampling methods as a possible solution to overcome barriers that could reduce the uptake of cervical cancer screening; privacy, comfortability and accessibility are major advantages of those methods.
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Role of self samplig for the diagnosis of human papiloma virus
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