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Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

Aims: Deletion 6q syndrome is considered a rare chromosomal anomaly. Thus, our objective was to report a rare case of a boy with 6q deletion syndrome.Case description: 4-year-old boy with delayed growth and neuropsychomotor development, weight gain difficulties and retinal abnormalities. Karyotypic analysis of the patient revealed karyotype 46, XY, del (6) (q25-qter). That is, a deletion in the long arm of one of the chromosome 6, specifically in the distal region of the long arm of the 6q25 band up to the 6qter band.Conclusions: This report demonstrates the importance of cytogenetic analyzes for the accurate diagnosis of congenital anomalies, as they assist in referring appropriate treatments to patients and in expanding scientific knowledge related to this deletion., Objetivos: Síndrome da deleção 6q é considerada uma anomalia cromossômica rara. Assim, nosso objetivo foi relatar um caso de um menino com essa síndrome, em Manaus/Amazonas.Descrição do caso: Menino com quatro anos de idade que apresenta atraso do crescimento e do desenvolvimento neuropsicomotor, dificuldades de ganho de peso e anormalidades na retina. A análise citogenética do paciente revelou cariótipo com 46, XY, del(6)(q25-qter).Conclusões: Este relato demonstrou a importância das análises citogenéticas para o diagnóstico preciso das anomalias congênitas, pois auxiliam no encaminhamento de tratamentos adequados aos pacientes e na ampliação de conhecimento científico relacionado a essa deleção.

A molecular cytogenetic study has been performed in three species of the genus Artemisia, complementing previous works on two subgenera that had been scarcely studied from this standpoint, Artemisia (A. chamaemelifolia, A. vulgaris) and Absinthium (A. absinthium). Chromomycin A3 and 4',6-diamidino-2-phenylindole (DAPI) banding have been carried out, as well as fluorescent in situ hybridization (FISH) of 5S and 18S-5.8S-26S ribosomal DNA. Morphometrical data of karyotype characters were calculated and idiograms with the position of the AT- and GC-rich regions as well as rDNA loci were constructed. Colocalization of most of these regions has been observed, confirming previous findings in this genus. Both ribosomal DNA appear always colocalized, which is a distinct feature with respect to most angiosperms surveyed. Regarding the differential characteristics of each species, a symmetrical karyotype has been found in the species studied. Artemisia absinthium shows long chromosomes and absence of centromeric banding signals that, conversely, are absent in A. vulgaris and A. hamaemelifolia. The last species also presents Bchromosomes in which ribosomal DNA and heterochromatin have been detected. Despite these differences, karyotype morphology and signal pattern of the three species are quite coincidental. This might reflect a close phylogenetic relationship between both subgenera, which is consistent with the available molecular phylogenies presenting species of the subgenera Artemisia and Absinthium intermixed.

Karyotype and relative DNA content were used to characterize Lactuca sativa, L. serriola, L. saligna and L. virosa and to determine their evolutionary relationships. In these species karyotype analyses requiring the identification of the homologues are unreliable, because not all chromosomes can be distinguished by their length and centromere position, and no useful additional cytological markers are available. Therefore the karyotypes were established using numerical parameters describing the whole metaphase complement rather than the individual chromosomes, namely: intraand interchromosomal asymmetry index, total chromosome length and area, and number of discernible satellites. The karyotype data were supplemented with data on relative DNA content. No significant differences were found between L. sativa and L. serriola, whereas L. saligna differed significantly from L. sativa/serriola only in its relative DNA amount. L. virosa differed from L. saligna and L. sativa/serriola for all parameters. The largest differences were found between L. saligna and L. virosa, although both have asymmetric karyotypes compared to L. sativa/serriola. Since asymmetric karyotypes in Compositae tribe Cichorieae (including Lactuca) are considered to be derived it follows that L. saligna and L. virosa are advanced species that evolved in different directions.

[EN] The knowledge of the specific karyotypes, the chromosome polymorphis and its frequencies in populations and species in very important, not only in evolutionary studies but also in the applied cytogenetic analysis. At present it is known that karyotype analysis of one species must be made in a great number of populations and an adequate number of individuals in each population. To accomplish this type of studies, in which is necessary to handle a great number of data, the use of a computer becomes a very useful tool that makes easier the systematization of the data and the achievement of statistical tests. In this paper we have made a guide or the arrangement of karyotype data and a easy computer statistical method, and also its utilization in the case of three populations of species of the section Bulbocodii D. C. of the genus Narcissus L., [ES]El conocimiento de los cariotipos específicos, así como de los polimorfismos cromosómicos y sus frecuencias en las poblaciones y especies constituyen datos de una gran relevancia, no sólo en los estudios evolutivos sino también en el campo de la citogenética aplicada. Hoy día se comprende que el análisis cariotípico de una especie debe extenderse, siempre que sea posible, a un buen número de poblaciones de la misma, así como a un adecuado número de individuos dentro de las poblaciones. Para llevar a cabo estudios de este tipo,en el que se manejan un gran número de datos, resulta una ayuda inestimable la utilización de un ordenador que facilite la sistematización de los datos y la realización de los test estadísticos. En el presente trabajo se presenta una guía para la ordenación de los datos cariotípicos y un método estadístico, relativamente sencillo, de procesado mediante un ordenador, así como su aplicación al caso concreto de tres poblaciones pertenecientes a especies de la sección Bulbocodii D. C. del género Narcissus L.