RESUMO
A newborn infant with the full manifestations of trisomy 9 syndrome is reported. Cytogenetic analysis reveled an homogeneous aneuploidy. Molecular studies using polymorphic microsatellites of chromosome 9 showed that non disjunction occurred at maternal meiosis II.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 9 , Trissomia , Anormalidades Múltiplas/patologia , Bandeamento Cromossômico , Feminino , Marcadores Genéticos , Humanos , Não Disjunção GenéticaRESUMO
We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.
Assuntos
Cromossomos Humanos Par 3 , Ligação Genética , Perda Auditiva Neurossensorial/genética , Retinose Pigmentar/genética , Adulto , Cegueira/genética , Criança , Feminino , Humanos , Itália , Masculino , SíndromeRESUMO
A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation. The clinical findings of the dup7q published cases are compared in order to define a possible common phenotype.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 7 , Anormalidades Craniofaciais/genética , Transtornos Psicomotores/genética , Humanos , Lactente , Cariotipagem , MasculinoRESUMO
A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes.
Assuntos
Amenorreia/genética , Cromossomos Humanos X , Mosaicismo , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Adolescente , Adulto , Amenorreia/etiologia , Feminino , HumanosRESUMO
The androgenetic origin of hydatidiform moles, due to a monospermic or dispermic mechanism, has been reported, and a possible pathogenetic relation with blighted ova suggested. To evaluate the origin of hydatidiform moles and their genetic relationship with blighted ova we investigated a series of samples, utilizing several hypervariable DNA polymorphisms by Southern blotting or PCR. Seven complete or partial hydatidiform mole and 49 blighted ovum cases were investigated. The results confirm the androgenetic origin of complete hydatidiform moles, which were always due in our sample to a monospermic mechanism. Our data exclude a relationship between hydatidiform moles and blighted ova, as in the latter a mixed paternal and maternal DNA contribution was always shown. A high incidence of chromosomal abnormalities in blighted ova was also found.