AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |
Back to Blog
Formato snip 1512/8/2023 To confirm the diagnosis, we performed FISH analysis with a centromeric probe for chromosome 15. Based on phenotypic evidence, it was reported as partial trisomy 15 (15pter → 15q1:) ( Fig. Biochemical testing showed normal amino acid levels karyotyping confirmed the presence of a minichromosome that could belong to part of either chromosome 14 or 15. Physical examination revealed oval-shaped face, broad nose, slightly slanting palpebral fissures, prominent ears, moderate midfacial hypoplasia, mild microagnathia, long limbs, and a tendency toward genu valgum and talipes equinovarus. We report a case of isodicentric chromosome 15, with multiple physical anomalies and epilepsy, which involves 15q11.2 as a breakpoint.Ī female patient was referred to the genetics department with a working diagnosis of seizures and minor abnormalities. 5 Phenotypic variability in these patients tends to be determined by the specific region involved in each chromosomal rearrangement. This phenomenon may result in tetrasomy of the short arm of chromosome 15 (15p) or partial tetrasomy of the long arm of chromosome 15 (15q). It is highly susceptible to the formation of clinically relevant DNA rearrangements, such as the formation of supernumerary markers formed by mirror-image duplication of chromosome 15. 2–4Ĭhromosomal region 15q1q13 is known for its instability, which is secondary to the presence of repetitive DNA sequences. In most of the cases studied to date, the extra chromosome is maternal in origin and related to phenotypic abnormalities and advanced maternal age. This location contains the critical regions for Prader-Willi syndrome (PWS) and Angelman syndrome (AS). 1 From a cytogenetic viewpoint, the disorder is defined as a mirror-image duplication of the piece of chromosome 15 between the end of the short arm and region 12–13 of the long arm (idic), including region q11 (q11 → q13). Its estimated incidence rate is 1 case per 30 000 births and it affects both sexes equally. Isodicentric chromosome 15 (idic), also known as inverted duplication 15 (inv dup 15) or partial tetrasomy 15q (OMIM 608636), is a clearly-defined clinical entity that presents with central hypotonia, developmental delay, intellectual impairment, epilepsy, autistic behaviour, and certain minor phenotypic abnormalities. El formato de artículos incluye Editoriales, Originales, Revisiones y Cartas al Editor, Neurología es el vehículo de información científica de reconocida calidad en profesionales interesados en la neurología que utilizan el español, como demuestra su inclusión en los más prestigiosos y selectivos índices bibliográficos del mundo. Los artículos publicados en Neurología siguen un proceso de revisión por doble ciego a fin de que los trabajos sean seleccionados atendiendo a su calidad, originalidad e interés y así estén sometidos a un proceso de mejora. Las áreas temáticas de la revistas incluyen la neurologia infantil, la neuropsicología, la neurorehabilitación y la neurogeriatría. Los contenidos de Neurología abarcan desde la neuroepidemiología, la clínica neurológica, la gestión y asistencia neurológica y la terapéutica, a la investigación básica en neurociencias aplicada a la neurología. Neurología es la revista oficial de la Sociedad Española de Neurología y publica, desde 1986 contribuciones científicas en el campo de la neurología clínica y experimental.
0 Comments
Read More
Leave a Reply. |