Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.

BACKGROUND: Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. CASE PRESENTATION: The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient's clinical features using a bioinformatics tool. CONCLUSION: To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation.

Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplication of 38 Mb of 9p13.1p24.3. Fluorescence in situ hybridization analysis detected three signals from 9p chromosome. The duplication is de novo, being another unique case of the few reported in the literature.

Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.

BACKGROUND: Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. CASE PRESENTATION: A 10-year-old Ecuadorian Mestizo girl with ring chromosome 4 was clinically, cytogenetically and molecularly analysed. Clinical examination revealed congenital anomalies, including microcephaly, prominent nose, micrognathia, low set ears, bilateral clinodactyly of the fifth finger, small sacrococcygeal dimple, short stature and mental retardation. Cytogenetic studies showed a mosaic karyotype, mos 46,XX,r(4)(p16.3q35.2)/46,XX, with a ring chromosome 4 from 75 to 79% in three studies conducted over ten years. These results were confirmed by fluorescence in situ hybridization (FISH). Loss of 1.7 Mb and gain of 342 kb in 4p16.3 and loss of 3 Mb in 4q35.2 were identified by high-resolution mapping array. CONCLUSION: Most cases with ring chromosome 4 have deletion of genetic material in terminal regions; however, our case has inv dup del rearrangement in the ring chromosome formation. Heterogeneous clinical features in all cases reviewed are related to the amount of genetic material lost or gained. The application of several techniques can increase our knowledge of ring chromosome 4 and its deviations from typical "ring syndrome."

Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.

BACKGROUND: Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring chromosome 15 syndrome have been reported since 1966 and a common phenotype for these patients has not been established. CASE PRESENTATION: The present case report describes a 15-month-old girl from the Amazon region of Ecuador, of Mestizo ancestry, who after cytogenetic tests showed a 46,XX,r(15) karyotype in more than 70% of metaphases observed. Her parents were healthy and non-related. The pregnancy was complicated and was positive for intrauterine growth retardation. Her birth weight was 1950 g, her length was 43.5 cm, and she had a head circumference of 29.3. In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition. CONCLUSIONS: Despite the frequency of some phenotypes expressed in the different clinical cases reviewed and the present case, a common phenotype for patients with ring 15 could not be determined and it is restricted to the region of the chromosome lost during the ring formation.

Análisis de las modificaciones en el índice de masa corporal en un grupo de pacientes con obesidad y mayores de edad / Analysis of Body Mass Index Changes in a Group of Adult Patients with Obesity / Análise das alterações no índice de massa corporal em uma turma de pacientes com obesidade e idosos

Objetivo: Analizar los cambios en el índice de masa corporal (IMC) en un grupo de pacientes obesos tras una intervención enfermera basada en promover cambios en su estilo de vida, mediante dieta hipocalórica, ejercicio físico y terapia conductual. Método: Estudio cuasi experimental con un muestreo no probabilístico de 32 pacientes cuyos criterios de inclusión fueron pacientes sanos, con autonomía para las actividades de la vida diaria y sin demencia senil. La intervención se fundamentó en una intervención enfermera basada en promover cambios en su estilo de vida y, posteriormente, se evaluó a través del descenso en el IMC. Resultados: El valor medio del IMC basal era de 34,2 al comienzo del estudio. Tras la intervención enfermera existe una progresiva disminución del IMC que fue estadísticamente significativa a los 6 meses de tratamiento, que resultó un valor medio en el IMC de 32,7. Es decir, una reducción del IMC en torno al 4%. Conclusiones: La intervención enfermera personalizada y el seguimiento intensivo favorecen una buena aceptación o adhesión al programa y permiten observar cambios en el estilo de vida de los pacientes imprescindibles para el control de la obesidad.

Objective: To analyze changes in body mass index (BMI) in a group of obese patients after a nurse-based intervention to promote changes in their lifestyle through lowcalorie diet, exercise and behavioral therapy. Method: quasi-experimental study with a non-probabilistic sample of 32 patients whose inclusion criteria were healthy patients, with autonomy for activities of daily living without dementia. The intervention was based on a nurse-based intervention to promote changes in their lifestyle and was subsequently evaluated by the decrease in BMI. Results: The mean value of the BMR was 34, 2 at the beginning of the study. After the nursing intervention there is a progressive decrease in BMI which was statistically significant after 6 months of treatment, which resulted in an mean value of 32,7. That is, a reduction in BMI of around 4%. Conclusions: personalized nursing intervention and intensive follow-up favor good acceptance or accession to the program and allow us to observe changes in the lifestyle of patients which is essential for controlling obesity

Analisar as mudanças no índice de massa corporal (IMC) em uma turma de pacientes obesos após intervenção de enfermagem baseada em promover mudanças no seu estilo de vida, mediante dieta hipocalórica, exercício físico e terapia condutual. Método: Estudo quase-experimental com amostragem não probabilístico de 32 pacientes cujos critérios de inclusão foram pacientes saudáveis, com autonomia para as atividades da vida diária e sem demência senil. A intervenção fundamentou-se em intervenção de enfermagem baseada em promover mudanças no estilo de vida e, posteriormente, foi avaliado através do descenso no IMC. Resultados: O valor médio do IMC basal era de 34,2 no começo do estudo. Após a intervenção de enfermagem há uma progressiva diminuição do IMC estatisticamente significativa aos 6 meses de tratamento, que resultou em um valor médio do IMC de 32,7. Ou seja, uma redução do IMC de cerca de 4%. Conclusões: A intervenção de enfermagem personalizada e seguimento intensivo favorecem uma boa aceitação ou adesão ao programa e permitem observar mudanças no estilo de vida dos pacientes imprescindíveis para o controle da obesidade.

Caracterización citogenética y molecular de una paciente ecuatoriana con cromosoma 4 en anillo: análisis clínico comparativo con 37 casos internacionales / Cytogenetic and molecular characterization of a Ecuadorian patient with ring chromosome 4: comparative clinical analysis with 37 international cases

Los cromosomas en anillo son alteraciones genéticas muy inusuales, consecuencia de deleciones en las regiones terminales y de la unión de los extremos expuestos del cromosoma afectado. En un cromosoma 4 en anillo las regiones que con más frecuencia se afectan son 4p16.3 del brazo corto y 4q35.2 del brazo largo. Sujeto y métodos Se presenta el caso de una paciente con cromosoma 4 en anillo diagnosticado cuando tenía diez días de edad. Al examen clínico presentó dismorfogénesis importante: frente plana, nariz puntiforme, implantación baja de pabellones auriculares, clinodactilia del quinto dedo, microcefalia, micrognatia, un orifcio en la región lumbosacra, estatura baja y retardo mental leve. A los 10 años de edad se le realizó una evaluación citogenética con técnicas más modernas: hibridación in situ fluorescente (FISH) y mapeo genético por arrays de ADN. El fenotipo de la paciente fue comparado con 37 casos reportados en la literatura internacional. Resultados En el análisis clínico de la paciente y los 37 casos internacionales se encontró alrededor de 41 características clínicas diferentes y variables en cada sujeto. Las más frecuentes fueron retraso en el crecimiento (78%), microcefalia (67%), retardo mental (62%), bajo peso al nacer (48%), clinodactilia del quinto dedo (37%), micrognatia (29%), hipertelorismo (21%) y alguna cardiopatía (18%). El estudio citogenético de la paciente a los diez días de edad mostró un cariotipo en mosaico 46,XX/46,XX,r(4) con anillo del cromosoma 4 en el 80% de las metafases. A los diez años de edad se encontró r(4) en el 90% de las células. El análisis por FISH reveló un cariotipo 46,XX,r(4).ish r(4)(p16.3q35.2) (492870-793359-,190183811-190408149-). Los arrays evidenciaron las regiones de pérdida de los brazos cortos y largos del cromosoma 4 involucrados en la formación del anillo. Los genes que con seguridad inciden en el fenotipo de la paciente en estudio son LETM1, WHSC1, WHSC2, MIR943, TACC3, IDUA, C4orf48 para retardo mental; LETM1 y WHSC1 para microcefalia y KIAA1530 para retraso en el crecimiento.

Ring chromosomes are rare chromosomal structure abnormalities; they are formed when a chromosomal deletion leads to the fusion of both ends of the chromosome. The most frequent altered regions in ring chromosome 4 are 4p16.3 in short arm and 4q35.2 in long arm. Subject and methods Here we report a 10 days old female patient whose frst cytogenetic diagnosis showed a ring chromosome 4. Clinical examination showed congenital abnormalities including flattened forehead, prominent nose, low set ears, clinodactyly of the ffth fnger, microcephaly, micrognathia, small sacrococcygeal dimple, short stature and mild mental retardation. At the aged of ten fluorescence in situ hybridization (FISH) and DNA microarrays were performed. Finally, patient phenotype was compared with other 37 cases reported in the literature. Results The clinical analysis between the patient and the 37 cases reported showed about 41 different clinical features that vary between each individual. The most frequent features were growth retardation (78%), microcephaly (67%), mental retardation (62%), short stature at birth (48%), clinodactyly of the ffth fnger (37%), micrognathia (29%), hypertelorism (21%) and some type of cardiopathy (18%). Chromosome analysis of the patient at 10 days old appeared as a chromosomal mosaicism 46,XX/46,XX,r(4), with ring chromosome 4 in 80% of the metaphases analyzed. At 10 years old of the patient it was observed r(4) in 90% of the cells. FISH analysis showed a karyotype 46,XX,r(4).ish r(4)(p16.3q35.2) (492870-793359-,190183811-190408149-). The arrays showed deleted regions at the short and long arms of chromosome 4 involved in the formation of ring chromosome. The genes that are manifested in the patient phenotype are LETM1, WHSC1, WHSC2, MIR943, TACC3, IDUA, C4orf48 for mental retardation; LETM1 y WHSC1 for microcephaly and KIAA1530 for growth retardation.