Assuntos
Troca Genética , Troca de Cromátide Irmã , Talassemia/genética , Adolescente , Adulto , Fatores Etários , Bromodesoxiuridina , Células Cultivadas , Criança , Pré-Escolar , Ácido Fólico/sangue , Genótipo , Hemoglobinas/análise , Humanos , Lactente , Contagem de Leucócitos , Linfócitos , Fatores Sexuais , Esplenectomia , Fatores de TempoAssuntos
Disostose Craniofacial/genética , Transtornos de Deglutição/genética , Hipertelorismo/genética , Hipospadia/genética , Laringe/anormalidades , Anormalidades Múltiplas/genética , Adulto , Criança , Esôfago/anormalidades , Feminino , Humanos , Recém-Nascido , Síndrome , Traqueia/anormalidadesAssuntos
Contratura/genética , Face/anormalidades , Transtornos do Crescimento/genética , Feminino , Humanos , Lactente , Articulações , SíndromeRESUMO
Fryns and his colleagues described two children with a remarkably similar phenotype, and suggested their condition was due to a partial or total deletion of the long arm of chromosome 16 distal to band q21. We report the same phenotype in a boy whose blood karyotype was normal.
Assuntos
Crânio/anormalidades , Deleção Cromossômica , Cromossomos Humanos 16-18 , Humanos , Recém-Nascido , Masculino , Fenótipo , SíndromeRESUMO
Lymphocyte cultures from homozygotes for the beta-thalassaemia gene were found to contain chromosomal gaps, breaks, and rearrangements more often than those from controls. Culture time seemed to have a determinant effect on the results. The possible influence of folic acid deficiency is discussed.
Assuntos
Aberrações Cromossômicas , Linfócitos/ultraestrutura , Talassemia/genética , Adolescente , Adulto , Células Cultivadas , Criança , Cromátides/ultraestrutura , Homozigoto , Humanos , Lactente , Talassemia/sangue , Fatores de TempoRESUMO
A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome.
Assuntos
Cromossomos Humanos 6-12 e X , Trissomia , Cromossomos Humanos 13-15 , Humanos , Lactente , Cariotipagem , MasculinoRESUMO
The propositus' grandmother has a fragile 16q and belongs to a large family where several abortions and congenital anomalies were recorded. The portion distal to the fragile site was inherited as an extra fragment by the proposius' father who has it in 11% of his lymphocyte metaphases. This phenotypically harmless fragment has a high affinity for satellited chromosomes and was probably a main factor in the causation of the rearrangement that produced the partial trisomy 20p found in the propositus.
Assuntos
Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Cromossomos Humanos 16-18 , Cromossomos Humanos 19-20 , Bandeamento Cromossômico , Humanos , Recém-Nascido , Cariotipagem , Masculino , LinhagemRESUMO
A case of oligohydramnios syndrome was found to have an XYY karyotype and an inherited 9qh inversion. It is suggested that normal and extra Y chromosomes are a predisposing factor in the aetiology of severe congenital renal anomalies.
