Assuntos
Face/patologia , Hemangioma , Hemangioma/congênito , Hemangioma/diagnóstico , Hemangioma/patologia , Humanos , Lactente , MasculinoRESUMO
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C>A).
Assuntos
Síndrome do Nevo Basocelular/genética , Códon sem Sentido , Mutação da Fase de Leitura , Neoplasias Mandibulares/genética , Receptores de Superfície Celular/genética , Síndrome do Nevo Basocelular/diagnóstico por imagem , Síndrome do Nevo Basocelular/patologia , Análise Mutacional de DNA , Éxons/genética , Feminino , Humanos , Masculino , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Mandibulares/patologia , Pessoa de Meia-Idade , Receptores Patched , Receptor Patched-1 , Linhagem , Reação em Cadeia da Polimerase , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
In this study, we report on the case of a newborn boy diagnosed after birth with an accessory scrotum attached to a peduncular type of perineal lipoma without any other associated congenital anomalies. The neonate underwent a simple surgical excision of the lipoma and accessory scrotum in the first month of life, and his postoperative course was uneventful. Histologic examination revealed normal scrotal skin and adipose tissue. Accessory scrotum has a high incidence of association with perineal lipoma (83% of reported cases) and other urogenital and anorectal anomalies, but urogenital or anorectal anomalies were not seen in our patient.
Assuntos
Lipoma/patologia , Períneo/patologia , Escroto/anormalidades , Neoplasias Cutâneas/patologia , Humanos , Recém-Nascido , Lipoma/congênito , Lipoma/cirurgia , Masculino , Períneo/cirurgia , Escroto/cirurgia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/cirurgiaRESUMO
An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, and mental and developmental retardation are not rare in association with a dicentric, bisatellited supernumerary marker chromosome 15, the present case is novel for a monocentric, monosatellited supernumerary marker chromosome 15 and the additional feature of hypoplastic corpus callosum. The present case provides support for the hypotheses that additional copies of different segments of proximal 15q are related to autism and to malformations of corpus callosum.
Assuntos
Agenesia do Corpo Caloso , Transtorno Autístico/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Malformações do Sistema Nervoso/genética , Transtorno Autístico/complicações , Criança , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Doenças em Gêmeos , Face/anormalidades , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Masculino , Malformações do Sistema Nervoso/complicações , Convulsões/complicações , Convulsões/genéticaRESUMO
INTRODUCTION: G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization) and SKY (Spectral Karyotyping). MATERIAL AND METHODS: This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007) at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis). RESULTS: Over a 15-year period (1992 - 2007) 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. DISCUSSION: On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000) of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000). CONCLUSION: It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.
