ABSTRACT
El síndrome 47, XXX se debe a un cromosoma extra del par sexual; su incidencia es de 1 en 1000 recién nacidas vivas. Sin embargo, este síndrome no suele sospecharse al nacimiento ni en la infancia. Muchas de estas pacientes son diagnosticadas durante la edad adulta por falla ovárica precoz o esterilidad, debido a la falta de características clínicas específicas .Este trabajo describe cuatro casos de pacientes 47, XXX y su variabilidad fenotípica.
The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed duringadulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn't have anyspecific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.
Subject(s)
Humans , Female , Aneuploidy , Genetic Diseases, X-Linked , Phenotype , Sex Chromosome DisordersABSTRACT
El síndrome de Smith-Magenis (SSM) consta de apariencia facial característica que progresa con la edad, retraso en el desarrollo, déficit cognitivo y trastornos conductuales asociados a una anomalía molecular en la zona crítica 17p11.2. Elt ratamiento incluye: intervención temprana en programas de educación especial, entrenamiento vocacional y terapias del lenguaje, físicas, ocupacional, conductuales y de integración sensorial. Presentamos una niña de 14 años con retraso mental, trastornosconductuales y dismorfias faciales, con diagnóstico de SSM confirmado mediante estudio citogenético y de hibridación insitu fluorescente (FISH).
Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early childhood intervention programs, special education, vocational training later in life, and speech/language, physical, and occupational, behavioral, and sensory integration therapies.We report a 14-year-old girl with mental retardation, behavioral abnormalities and facial dysmorphism, with SMS diagnosis confirmed by cytogenetic analysis and in situ hydridization (FISH).
Subject(s)
Adolescent , Child Behavior Disorders , Intellectual Disability , Psychomotor AgitationABSTRACT
Four low-grade gliomas - two oligodendrogliomas and two astrocytomas - were analyzed cytogenetically. All cases exhibited monosomies of chromosomes 10 and 11. The astrocytomas shared monosoniies of chromosomes 8, 9, 1O, 11, 12, 18 and 20. Losses of chromosomes 3, 5, 6, 10 and I I were present in both oligodendrogliomas, and except for monosomy of chromosome 6, were also identified in the pilocytic astrocytoma.