We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the type IV alpha chain collagen gene, however, no known collagen-related gene is currently mapped to 17p11. Duplications involving 17p11.2 have been reported in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few sporadic patients with mental retardation and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus. Further studies may clarify the meaning of the association between Alport syndrome and duplications of DNA sequences mapped at 17p11.2.

-Considering the rarity of the frontonasal dysplasia (FD) and the few reports about it in a large casuistry using magnetic resonance image (MRI), we describe the results of the angular analysis of the corpus callosum of 18 individuals with FD (7 male, 11 female), using an easily-reproductive method. Group I had 12 individuals with isolated form and Group II had 6 individuals with FD syndromic with unknown etiology. The results are presented in set. Comparing with the control group, patients with FD presented alpha angle increase and beta and gamma angles reduction (p<0.05).Alpha and gamma angles express the relationship between the anterior portion of corpus callosum and the floor of 4 th ventricle. Considering the embryonary development, these findings would occur secondarily to failure during the development of nasal capsula. Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD.KEY WORDS: corpus callosum, frontonasal dysplasia, magnetic resonance image, midline facial cleft. Análise angular do corpo caloso em 18 pacientes com displasia frontonasalRESUMO -Considerando a raridade da displasia frontonasal (DF) e os poucos estudos sobre esta condição clínica usando ressonân-cia magnética (RM), descrevemos os resultados da análise angular do corpo caloso em 18 indivíduos com DF (7 homens, 11 mulheres), usando um método de fácil reprodução. O Grupo I foi formado por 12 indivíduos com DF isolada e o Grupo II, por 6 portadores de DF sindrômica de etiologia desconhecida. Não houve diferença entre os grupos, e os dados são apresentados em conjunto. Comparando com o grupo controle, houve aumento significativo do ângulo alfa e redução dos ângulos beta e gama (p<0,05) Os ângulos alfa e gama expressam a relação entre a porção anterior do corpo caloso e do piso do 4º ventrículo. Esses achados radiológicos poderiam ocorrer secundariamente à falência do desenvolvimento da cápsula nasal. Assim, as anomalias angulares no corpo caloso poderiam ser um achado usual, e não fortuito, na DF. PALAVRAS-CHAVE: corpo caloso, displasia frontonasal, ressonancia magnética, fenda facial mediana.Frontonasal dysplasia (FD) is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies [1][2][3] in which clinical and etiological heterogeneity have been recognized since the first review 4 . Several central nervous system (CNS) anomalies are mentioned in this condition, such as frontal encephalocele, myelomeningocele, Chiari's malformation, hydrocephalus and Corpus callosum anomalies [5][6][7][8][9] . A morphometric method based on measurement of five angle in order to perform a morphological analysis of the corpus callosum in craniofacial malformative syndromes was described 10 . This method was used in 34 patients with different condition, including one with FD.In this article, we describe the angular analysis of 18 individuals with FD. METHODWe evaluated 18 individuals (7 males and 11 females) affected by FD. Minimum inclusion criteria were ocul...

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed.

The herbicide Dormex®, a solution of hydrogen cyanamide, is a growth regulator capable of breaking the dormancy of fruit plants, and is commonly applied in agriculture. However, the biological effects of this product on non-target organisms are unknown. The present study investigated the biological response of Astyanax lacustris (Lütken, 1875) specimens exposed to Dormex® using a chromosome aberration test, the mitotic index, and the histological analysis of the gills. Forty specimens of Astyanax lacustris were obtained from a local breeding facility and divided into 10 groups (nine experimental and one control) with four fish in each aquarium (group). The control group was maintained for 24 hours in dechlorinated water while the experimental groups were allocated to one of nine different treatments, with three concentrations of Dormex®, 0.05, 0.1 and 0.5 mL L-1, and exposure for 24, 48 and 72 hours. The fish exposed to Dormex® presented chromosomal aberrations of a number of types, including chromosomal breaks, acentric fragments, decondensation, and gaps at the three Dormex® concentrations, at all exposure times. The mitotic index decreased significantly in comparison with the control group. The histological preparations of the gills revealed alterations such as hyperplasia, and lamellar fusion and edema, whereas in the control group the structure of the gills was preserved. The cytogenetic analysis revealed the genotoxic potential of the herbicide Dormex® and the morphological alterations of the gills demonstrated the sensitivity of the fish, which responded rapidly to the stressor. These findings reinforce the need for special care and restrictions on the use of these herbicides in agricultural areas located near aquatic environments.

We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the type IV alpha chain collagen gene, however, no known collagen-related gene is currently mapped to 17p11. Duplications involving 17p11.2 have been reported in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few sporadic patients with mental retardation and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus. Further studies may clarify the meaning of the association between Alport syndrome and duplications of DNA sequences mapped at 17p11.2.

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We describe a Brazilian girl presenting Ohdo syndrome with cleft palate and diverticula of the bladder. Gestational history revealed the occurrence of fever for 12 days in the second month of gestation. To our knowledge, cleft palate and urinary abnormalites are hitherto undescribed features of this syndrome. Additional case reports could elucidate the fortuitous or causal association of these signs, the full phenotypic spectrum, as well as the pattern of transmission of the Ohdo syndrome.

Resumo A Síndrome de Deleção 22q11.2 é a mais comum microdeleção cromossômica da espécie humana, com grande variabilidade fenotípica. Pode estar associada com hipocalcemia neonatal idiopática e imunodeficiências. Apesar dessas duas manifestações serem importantes na SDel 22q11.2, sua heterogeneidade clínica pode atrasar o diagnóstico, comprometendo o manejo global e o aconselhamento genético. O objetivo deste estudo é contribuir para o diagnóstico da SDel 22q11.2 por meio da identificação da prevalência de hipocalcemia neonatal e infecções recorrentes/imunodeficiências em casos com suspeita de SDel 22q11.2. Foram utilizados dados de pacientes coletados na CranFlow-BDDEL22q11.2 (Brazilian database on 22q11.2 deletion syndrome), e comparados os resultados dos casos confirmados e os negativos para esta microdeleção. Quanto às variáveis estudadas, percebeu-se baixas frequências de casos com relato de hipocalcemia ou imunodeficiências, não sendo possível considerar estas variáveis como sinais cardinais que indicassem investigação de SDel 22q11.2. Já em relação a história clínica de infecções, análise estatística demonstrou diferença significativa desta variável quando relacionada a voz anasalada, refluxo gastroesofágico e defeitos cardíacos específicos, sendo essa ssociação relevante na medida em que pode servir de alerta para a necessidade de investigação da SDel 22q11.2.