Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay.

Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient's GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as "pure" partial duplication 12p. In most cases, duplication 12p phenotype is characterized by dysmorphic features, multiple congenital anomalies and intellectual disability. A small number of cases in literature have described genes associated with neurodevelopmental disease, such as ING4, CHD4, MFAP5, GRIN2B, SOX5, SCN8A and PIANP. In our patient the duplication 12p was de novo. This study should contribute to the genotype-phenotype correlation in partial duplication 12p cases.

MUC1 gene polymorphism in three Nelore lines selected for growth and its association with growth and carcass traits.

The objective of this study was to describe the VNTR polymorphism of the mucin 1 gene (MUC1) in three Nelore lines selected for yearling weight to determine whether allele and genotype frequencies of this polymorphism were affected by selection for growth. In addition, the effects of the polymorphism on growth and carcass traits were evaluated. Birth, weaning and yearling weights, rump height, Longissimus muscle area, backfat thickness, and rump fat thickness, were analyzed. A total of 295 Nelore heifers from the Beef Cattle Research Center, Instituto de Zootecnia de Sertãozinho, were used, including 41 of the control line, 102 of the selection line and 152 of the traditional. The selection and traditional lines comprise animals selected for higher yearling weight, whereas control line animals are selected for yearling weight close to the average. Five alleles were identified, with allele 1 being the most frequent in the three lines, especially in the lines selected for higher means for yearling weight. Heterozygosity was significantly higher in the control line. Association analyses showed significant effects of allele 1 on birth weight and weaning weight while the allele 3 exert significant effects on yearling weight and back fat thickness. Despite these findings, application of this marker to marker-assisted selection requires more consistent results based on the genotyping of a larger number of animals in order to increase the accuracy of the statistical analyses.

Association between MUC1 gene polymorphism and expected progeny differences in Nelore cattle (Bos primigenius indicus).

MUC1 is a heavily glycosylated mammalian transmembrane protein expressed by mucosal secretory tissues for both protection against microbial infection and lubrication. An important characteristic of MUC1 is its variable number of tandem repeats (VNTR) containing several sites for O-glycosylation. VNTR length has been associated with many human diseases and with certain economically important traits in domestic ruminants. The aim of the present study was to correlate the length of MUC1 gene VNTR with expected progeny differences (EPDs) obtained for growth, fertility and carcass traits. Five alleles were identified, with alleles containing short VNTRs being more frequent than those with long, thereby demonstrating that Brazilian Nelore cattle are characterized by high frequencies in short MUC1 VNTRs. Statistical analyses revealed there to be no significant association between VNTR length and EPDs for weight at 120 days (W(120) ), scrotal circumference at 365 (SC (365) ) and 450 (SC (450) ) days, age at first calving (AFC), and rib eye area (REA).

Association between MUC1 gene polymorphism and expected progeny differences in Nelore cattle (Bos primigenius indicus)

MUC1 is a heavily glycosylated mammalian transmembrane protein expressed by mucosal secretory tissues for both protection against microbial infection and lubrication. An important characteristic of MUC1 is its variable number of tandem repeats (VNTR) containing several sites for O-glycosylation. VNTR length has been associated with many human diseases and with certain economically important traits in domestic ruminants. The aim of the present study was to correlate the length of MUC1 gene VNTR with expected progeny differences (EPDs) obtained for growth, fertility and carcass traits. Five alleles were identified, with alleles containing short VNTRs being more frequent than those with long, thereby demonstrating that Brazilian Nelore cattle are characterized by high frequencies in short MUC1 VNTRs. Statistical analyses revealed there to be no significant association between VNTR length and EPDs for weight at 120 days (W120), scrotal circumference at 365 (SC365) and 450 (SC450) days, age at first calving (AFC), and rib eye area (REA).

Trissomia 13 e pré-eclâmpsia / Trisomy 13 and preeclampsia

Um total de quatro recém-nascidos com trissomia 13 (80 por cento do total de casos) foi estudado retrospectivamente, assim como suas genitoras, no que concerne à associaçao entre trissomia 13 e pré-eclâmpsia. Os parâmetros analisados referiram-se aos dados de pré-natal concernentes aos níveis pressóricos, intercorrências clínico-obstétricas e idade materna. Para cada criança com trissomia 13, foram escolhidas, aleatoriamente, quatro crianças com cariótipo normal. A incidência de trissomias 13 mostrou-se discretamente elevada no nosso meio (1,4/10.000 recém-nascidos vivos). A idade materna dos recém-nascidos trissômicos mostrou-se significativamente mais, elevada que a do grupo-controle, condizente com os achados vigentes da literatura, onde a idade materna avançada é fator importante na etiologia das trissomias. A análise da série revelou associaçao entre gestaçoes com trissomia 13 e pré-eclâmpsia (p

Síndrome da insensibilidade androgênica: estudo comparativo entre as formas completa e incompleta / Androgen insensitivity syndrome: a comparative study between the complete and the incomplete forms

Com o objetivo de apresentar o perfil hormonal, a avaliaçäo diagnóstica e a conduta terapêutica na Síndrome da Insensibilidade Androgênica (SIA), realizamos um estudo de 15 pacientes, incluindo 10 com a forma completa e 5 com a forma incompleta. O diagnóstico foi firmado durante ou após a puberdade em 60 por cento dos casos. Gonadectomia bilateral foi realizada à época do diagnóstico na forma incompleta, e após a puberdade na forma completa. Estrogenioterapia foi mantida na puberdade após gonadectomia. Considerando o perfil hormonal, os níveis de LH estavam elevados em ambos os grupos, o FSH somente na forma incompleta e o E2, T e PRL. Após gonadectomia, o LH e FSH elevaram-se e a T diminuiu, significativamente.

46, XX, r (13)/46, XX, iso psu dic (13)? mosaicism

Os autores descrevem um caso raro de mosaicismo cromossômico 46,XX, r (13)/46, XX, iso psu dic (13)? em uma paciente que apresentava sinais clínicos semelhantes aos observados na síndrome do anel do cromossomo 13 (categoria 2a de Niebuhr, 1977). Discutem a hipótese de uma origem comum para as duas linhagens celulares e comparam os achados clínicos e citogenéticos aos descritos na literatura