A family with three independent autosomal translocations associated with 7q32----7qter syndrome.
J Med Genet
; 22(1): 59-63, 1985 Feb.
Article
en En
| MEDLINE
| ID: mdl-3981581
ABSTRACT
Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Translocación Genética
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Trisomía
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Nariz
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Cromosomas Humanos 1-3
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Cromosomas Humanos 6-12 y X
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Fisura del Paladar
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
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Female
/
Humans
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Male
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Newborn
Idioma:
En
Revista:
J Med Genet
Año:
1985
Tipo del documento:
Article