RESUMO
True chromosomal mosaicism of double trisomy (48,XX, +7, +20) was detected in amniotic fluid cell cultures at 16 and 20 weeks of gestation. No aneuploid cells were found in chorionic villus samples (CVS) by semidirect preparation and long-term culture. High-level ultrasound did not indicate any structural abnormality of the fetus. At 38 weeks of gestation, a phenotypically normal girl was born. She is now 22 months old and normally developed. At birth, various samples were investigated by routine cytogenetic methods or by fluorescence in situ hybridization with the probe p7t1 (umbilical cord blood, placental tissue, umbilical cord fibroblasts, urine sediment) and no abnormal cells could be detected in any of those tissues.
Assuntos
Líquido Amniótico/citologia , Aberrações Cromossômicas/diagnóstico , Doenças Fetais/diagnóstico , Mosaicismo , Resultado da Gravidez , Diagnóstico Pré-Natal/métodos , Trissomia , Adulto , Amostra da Vilosidade Coriônica , Transtornos Cromossômicos , Feminino , Sangue Fetal/citologia , Fibroblastos/citologia , Humanos , Hibridização in Situ Fluorescente , Fenótipo , Placenta/citologia , Gravidez , Ultrassonografia Pré-Natal , Cordão Umbilical/citologiaRESUMO
A female patient with hereditary chronic pancreatitis is described. She presented initially at the age of 18 years with abdominal pain due to acute pancreatitis. Predisposing etiological factors were not recognized. During the ensuing years she had recurrent episodes of abdominal pain and chronic pancreatitis with extensive pancreatic calcifications was finally demonstrated. Six other family members within three generations were affected by chronic pancreatitis suggesting an autosomal dominant mode of transmission. None of the affected patients showed signs of diabetes mellitus, aminoaciduria or hyperparathyroidism.
Assuntos
Aberrações Cromossômicas/genética , Genes Dominantes , Pancreatite/genética , Adulto , Calcinose/diagnóstico , Calcinose/genética , Transtornos Cromossômicos , Doença Crônica , Feminino , Seguimentos , Humanos , Testes de Função Pancreática , Pancreatite/diagnóstico , Linhagem , Recidiva , Tomografia Computadorizada por Raios XRESUMO
Down syndrome, the most common birth defect causing mental retardation, is characterized by a specific phenotype including subfertility or sterility and hypogonadism in males. In contrast, several females with Down syndrome have borne offspring. Here, a male with trisomy 21 fathering an infant is described. This observation is verified by serological markers, DNA fingerprinting using different DNA micro- or minisatellites and andrological investigations.
Assuntos
Síndrome de Down/fisiopatologia , Adulto , Impressões Digitais de DNA , Feminino , Fertilidade/genética , Humanos , Masculino , Paternidade , Linhagem , Sêmen/citologiaRESUMO
OBJECTIVE: To examine the possible association between factor XII (FXII) deficiency and an elevated number of abortions. DESIGN: Factor XII activity, FXII antigen concentration, other blood clotting parameters, and phospholipid antibodies were examined in venous blood from 43 women with repeated (3 to 7) abortions before the 28th week of gestation but without gynecological and chromosomal abnormalities. The data were compared with those obtained from 49 age-matched women without fetal loss. RESULTS: Eight cases with moderately reduced FXII activity (35% to 68% of normal) could be identified in the abortion group, whereas among controls no abnormalities in FXII activity and antigen concentration were found. The relative occurrence of reduced FXII level was higher among patients with more than three abortions as compared with those with three abortions. CONCLUSION: Repeated abortions may be associated with reduced level of FXII activity of unknown origin.
Assuntos
Aborto Habitual/complicações , Deficiência do Fator XII/complicações , Aborto Habitual/sangue , Aborto Habitual/classificação , Adulto , Fator XII/análise , Feminino , Humanos , Gravidez , Valores de ReferênciaRESUMO
A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karyotypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Amônia/sangue , Deleção Cromossômica , Doença da Deficiência de Ornitina Carbomoiltransferase , Ornitina Carbamoiltransferase/genética , Cromossomo X/fisiologia , Pré-Escolar , Feminino , HumanosRESUMO
A female infant with partial trisomy 3p, facial dysmorphism, cleft palate and severe psychomotor retardation is described. Cytogenetic evaluation revealed a paternal balanced translocation which could also be detected in three relatives of the father. The observed clinical features of the patient are discussed by comparison with 47 previously reported cases.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 3 , Trissomia , Adulto , Transtornos Cromossômicos , Fissura Palatina/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/genética , Cariotipagem , Masculino , Linhagem , Fenótipo , Translocação GenéticaRESUMO
The Holt-Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt-Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.
