RESUMO
Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on X and Y chromosomes during male meiosis. The slightly different clinical phenotypes of the three patients cannot be correlated with the localization of the breakpoints.
Assuntos
Síndrome de Turner/genética , Cromossomo Y/genética , Adulto , Criança , Gonadotropina Coriônica , Citogenética , DNA/genética , Hormônios Esteroides Gonadais/sangue , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Cromossomo Y/ultraestruturaRESUMO
Obstruction of the jejunum diagnosed during operation in a female patient with an ileous state. The patient had a history of loss of body weight, intermittent abdominal spastic pain in the umbilical region, fatigue, vomiting, histologically evaluated as a jejunal manifestation of Recklinghausen's disease.
Assuntos
Obstrução Intestinal/etiologia , Neoplasias do Jejuno/complicações , Neurofibromatose 1/complicações , Adulto , Feminino , Humanos , Doenças do Jejuno/etiologia , Neoplasias do Jejuno/patologia , Neurofibromatose 1/patologiaRESUMO
BACKGROUND: We report on phenotypically discordant female monozygotic twins with 45X/46,XX mosaicism in both lymphocytes and fibroblasts. RESULTS: At 11.5 years, twin A was prepubertal, her height was 126.8 cm (-3.15 SD), bone age (BA) 9.7 years (TW2), FSH 47 IU/l and IGF-I 280 ng/ml (-0.89 SD), but twin B was pubertal (P2, B3), her height was 143.4 cm (-0.92 SD), BA 13.6 years (TW2), FSH 3.4 IU/l and IGF-I 380 ng/ml (-0.21 SD). One year later, twin A had grown 11.1 cm due to growth hormone therapy and had IGF-I 1,400 ng/ml (+5.91 SD), whereas the growth velocity of twin B (no therapy) was 5.9 cm, IGF-I 540 ng/ml (+0.57 SD) and she started regular menstruation at 12.1 years. CONCLUSION: To our knowledge, this is the first report on monozygotic twins with Turner mosaicism in both lymphocytes and fibroblasts who developed a discordant phenotype probably due to an unequal distribution of the two cell lines in distinct tissues.
Assuntos
Doenças em Gêmeos , Transtornos do Crescimento/genética , Hipogonadismo/genética , Mosaicismo , Síndrome de Turner/genética , Gêmeos Monozigóticos , Criança , Estradiol/uso terapêutico , Feminino , Hormônio Foliculoestimulante/sangue , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipogonadismo/tratamento farmacológico , Fator de Crescimento Insulin-Like I/análise , Hormônio Luteinizante/sangue , Fenótipo , PuberdadeRESUMO
BACKGROUND: The Ullrich-Turner syndrome (UTS) demonstrates a great clinical variability according to the cytogenetic and molecular genetic findings in various tissues. In few cases the karyotype reveals the presence of an additional Y-bearing cell line which is referred to as a borderline case of mixed gonadal dysgenesis. In this condition, Turner specific stigmata occur in about half of the cases. PATIENT: A 10 year-old girl with short stature and only a few other signs of Turner syndrome and hypertrophic clitoris revealed 45,X/46,X,idic(Yq) mosaicism with 41% 46,X,idic(Yq) cells in a blood lymphocyte culture. METHODS AND RESULTS: Fluorescence in situ hybridisation (FISH) technique, using alpha-satellite Y-chromosome specific probe for locus DYZ3, confirmed the isodicentric character of this structurally abnormal Y chromosome. Polymerase chain reaction (PCR) analysis using primers for eight loci along the Y chromosome including SRY (Sex determining Region, Y gene) were positive for all loci tested, indicating that sequences from the long arm, centromere and most of the short arm of the Y chromosome are present. CONCLUSIONS: As patients with normal or rearranged Y chromosome have an increased risk of developing gonadal neoplasia prophylactic gonadectomy was performed in our patient. No evidence for gonadoblastoma was found on her streak-like gonads, but they showed some evidence of tubular formation. This paper points out the impact of cytogenetic and molecular genetic investigations in the definition of mosaicism in Turner's syndrome.
Assuntos
Mosaicismo , Síndrome de Turner/genética , Cromossomo Y/genética , Criança , Feminino , Humanos , Hibridização in Situ Fluorescente , Neoplasias Ovarianas/prevenção & controle , Ovariectomia , Reação em Cadeia da PolimeraseRESUMO
The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specificity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic potential of cytogenetic investigations as routinely employed in TS. In the most comprehensive study published so far we screened 208 TS patients for the presence of Y-chromosomal sequences by polymerase chain reaction (PCR) specific for eight different loci along the Y-chromosome. Six patients (3%) without cytogenetic evidence of Y-chromosome were found to be Y-positive. Among 12 cases with marker chromosomes two more Y-chromosomal fragments were identified. Thus, PCR-screening for Y-specific sequences was shown to be a valuable tool in the clinical management of Turner patients.