RESUMO
No disponible
Assuntos
Pessoa de Meia-Idade , Adulto , Idoso , Idoso de 80 Anos ou mais , Masculino , Feminino , Humanos , Paraparesia Espástica Tropical , Custos de Cuidados de Saúde , Distrofia Miotônica , Miastenia Gravis , Infarto Cerebral , Doença Aguda , Hospitalização , TelencéfaloRESUMO
The origin of a de novo metacentric small marker chromosome found in a cytogenetic study in amniotic fluid was determined by fluorescence in situ hybridization (FISH) using chromosome specific probes. It was identified as an isochromosome 18p. We want to emphasize that when an extra chromosome is found in prenatal diagnosis and it cannot be identified by conventional cytogenetics banding, FISH should be applied in order to give real risks for fetal anomalies and an accurate genetic counselling.
Assuntos
Cromossomos Humanos Par 18 , Aconselhamento Genético , Isocromossomos , Diagnóstico Pré-Natal/métodos , Líquido Amniótico/fisiologia , Pré-Escolar , Fibroblastos/fisiologia , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linfócitos/fisiologia , MasculinoRESUMO
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.
Assuntos
Anormalidades Múltiplas/genética , Inversão Cromossômica , Cromossomos Humanos Par 7 , Recombinação Genética , Bandeamento Cromossômico , Aconselhamento Genético , Humanos , Recém-Nascido , Masculino , Monossomia , Fatores de Risco , TrissomiaRESUMO
We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants with a 92,XXYY karyotype.
Assuntos
Anormalidades Múltiplas/genética , Poliploidia , Fenda Labial/genética , Transtornos do Crescimento/genética , Humanos , Lactente , MasculinoRESUMO
A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a t(X;20) in the tumor cells. Karyotypes of peripheral blood of the patient and her parents were normal. This translocation was confined to the tumor and not been previously reported either in nephroblastoma or any other neoplastic processes. Although there is no microscopic deletion on chromosome 11 and catalase activity was not decreased, we cannot rule out the possibility of a point mutation or a submicroscopic deletion.
Assuntos
Síndrome de Beckwith-Wiedemann/genética , Cromossomos Humanos Par 20 , Neoplasias Renais/genética , Translocação Genética , Tumor de Wilms/genética , Cromossomo X , Pré-Escolar , Feminino , Humanos , CariotipagemRESUMO
Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic and low set ears, clinodactily, failure to grow, muscular hypotony and mental retardation. Different hypotheses are discussed in order to explain the variable phenotypical expression of the 18 p-syndrome.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 18/ultraestrutura , Deficiência Intelectual/genética , Agamaglobulinemia/genética , Criança , Pré-Escolar , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Face/anormalidades , Feminino , Transtornos do Crescimento/genética , Humanos , Deficiência de IgA , Lactente , Recém-Nascido , Masculino , Linhagem , SíndromeRESUMO
This paper concerns the case of an anencephalus male fetus with partial trisomy 20p product of a maternal translocation 46,XX, t(15;20) (p11.2;p12), ascertained by prenatal diagnosis. A cytogenetic review of previous cases is presented. Several hypotheses are discussed in order to explain the recurrent abortions of the mother and the aetiology of anencephaly in this last pregnancy.
Assuntos
Anencefalia/genética , Cromossomos Humanos Par 20 , Trissomia , Aborto Habitual/genética , Anencefalia/diagnóstico , Cromossomos Humanos Par 15 , Feminino , Humanos , Linhagem , Gravidez , Diagnóstico Pré-Natal , Translocação GenéticaRESUMO
Two new cases of an unusual chromosome 16 variant, 16p+, in non-related normal carriers are reported.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 16 , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , MasculinoRESUMO
This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a supraorbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.
Assuntos
Anormalidades Múltiplas/genética , Encéfalo/anormalidades , Síndrome de Down/complicações , Síndrome de Down/genética , Feminino , Humanos , Recém-Nascido , Masculino , Nariz/anormalidades , Órbita/anormalidades , Gravidez , Gravidez em DiabéticasRESUMO
We report on a male infant with a duplication 9p (pter----q13) and duplication 16p (p13----pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene-Diagram Model of Jalbert et al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 16 , Translocação Genética , Adulto , Bandeamento Cromossômico , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
We report a 2-years-old infant who presented psychomotor delay and facial dysmorphic features. He has a partial monosomy of 15q resulting from de novo t(15;22)(q15;p11). Up to now three other cases with a similar 15q monosomy have been reported, but the present case is the first one with a "pure" monosomy 15q.
