RESUMO
We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.
Assuntos
Deleção Cromossômica , Cromossomos Humanos 6-12 e X , Exostose Múltipla Hereditária/genética , Adolescente , Feminino , Humanos , Deficiência Intelectual/genética , Cariotipagem , Microcefalia/genética , SíndromeRESUMO
Two further cases (one previously published as D/D translocation) of 15/15 translocation in Prader-Willi syndrome are reported, which brings the total cases of this specific chromosomal anomaly in connection with this specific syndrome up to three or possibly four. It is suggested that Prader-Willi syndrome might be caused by loss of short arm material of chromosome 15.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos 13-15 , Síndrome de Prader-Willi/genética , Translocação Genética , Criança , Cromossomos Humanos/ultraestrutura , Técnicas Citológicas , Técnicas Genéticas , Humanos , Masculino , Quinacrina , Coloração e RotulagemRESUMO
Satellite DNA III visualized by staining chromosomes with Giemsa at pH 10-12. Evidence is presented that besides the secondary constriction of chromosome 9, satellite III contained in considerable amount in the long arms of chromosome 20, giving rise to a clearly visible secondary constriction just below the centromere. The latter finding confirms that reported by Bobrow et al. (1972). The long arms of the Y chromosome also show strong staining with alkaline Giemsa, the region of staining corresponding exactly with the intensely flourescing area. This is interpreted as possible evidence for the presence of satellite DNA III in the distal long arms of the human Y chromosome.
