Estabilidad a largo plazo en pacientes con patrón de crecimiento horario, tratados con intrusión molar mediante minitornillos / Long-term stability in patients treated with molar intrusion using miniscrews

OBJETIVOS Determinar los cambios cefalométricos esqueletales y dentarios y la estabilidad a largo plazo, en pacientes con patrón de crecimiento horario, tratados con intrusión molar maxilar mediante minitornillos.

The genetic and epigenetic landscapes of hepatoblastomas

Primary liver cancers are rare in children, and the most common type is hepatoblastoma (HB), an embryonal tumor with histological features that resemble different stages of liver cell differentiation. However, mainly because of its rarity, molecular data on HB tumorigenesis remain scarce. This article reviews the current knowledge regarding genetic and epigenetic alterations reported in HB cases, with emphasis on the recent findings of next-generation sequencing studies (AU)

A de novo em ~1.3 Mb microdeletion at 17q11.2 associated with Neurofibromatosis-Noonan syndrome

Introduction: Neurofibromatosis-Noonan syndrome is a clinical entity considered an extended Neurofibromatosis phenotype generally caused by different types of intragenic mutations at the NF1 gene. About 5%-10% of patients with neurofibromatosis diagnosis carry chromosomal microdeletions involving NF1, often presenting with a more severe phenotype than that observedin the patients carrying intragenic mutations; however, anticipating the presence of a deletion based only in the phenotype is not straightforward. Patient and Methods: Here we investigated by oligoarray-CGH (aCGH) the presence of a submicroscopic genomic rearrangement in a patientwith a clinical picture of Neurofibromatosis, and other characteristics compatible with Noonansyndrome. Results: The aCGH analysis revealed a germline de novo ~1.3 Mb microdeletion at 17q11.2 encompassing other coding genes besides the NF1 gene. Discussion: Up to now, thenumber of reported patients with Neurofibromatosis-Noonan syndrome carrying NF1 microdeletions is quite small. The continuous identification of patients carrying 17q11.2 deletions canhelp to establish a reliable genotype-phenotype relationship in this syndrome

Array-CGH testing in spontaneous abortions with normal karyotypes

In about 50 percent of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89 percent) specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51 percent cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10 percent of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH). In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness) infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.

The karyotype of the brown mussel Perna perna (L.) (Bivalva: mytilidae)

Descrevemos o cariótipo do mexilhäo comestível Perna perna (L.). As metáfases mitóticas foram obtidas de embriöes de 16 a 20 horas. O numero diplóide foi de 28, incluindo quatro pares de cromossomos metacêntricos, cinco submetacêntricos, e cinco subtelocêntricos ou acrocêntricos. Estudos preliminares das bandas C revelaram a presença de blocos heterocromáticos intercalares e terminais além dos pericentroméricos

Normal male carriers on the Martin-Bell syndrome gene: implications for genetic counseling

A freqüência de comprometimento mental foi estimada entre os parentes de homens normais portadores do gene da SMB. Suas filhas, hetertozigotas certas, säo raramente afetadas e a freqüência de comprometimento mental em suas irmandades é menor do que nas irmandades de homens afetados. Seus netos e netas, entretanto, têm risco de serem afetados semelhantes ao dos filhos e filhas de heterozigotas filhas de mulheres portadoras. Os riscos de afetados na prole de possíveis portadores que näo expressam o X frágil foram calculados nos casos em que o gene pode ser transmitido por um homem normmal

Genetic counseling in Martin-Bell syndrome

A Síndrome de Martin-Bell (MBS) de herança ligada ao X é uma causa importante de retardo mental. A ocorrência de homens normais portadores do gene e a alta freqüência de heterozigotas que manifestam comprometimento mental fazem com que o padräo de herança desta síndrome seja marcadamente diferente do de outras doenças ligadas ao X. Além disso, embora a expressäo do X frágil permita a identificaçäo de portadores normais do gene da MBS, muitos deles säo fra(X)-negativos. Neste trabalho, estimamos o risco de afetados na prole de possíveis portadores do gene da MBS que säo fra(X)-negativos. Estes riscos nunca excederam 10%