4p- phenotype in an infant with t(4p-;19p or q+)mat translocation.
Am J Dis Child
; 129(3): 363-5, 1975 Mar.
Article
em En
| MEDLINE
| ID: mdl-1121967
ABSTRACT
Four family members had an apparently balanced t(4p-;19p or q+) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."
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Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Aberrações Cromossômicas
/
Cromossomos Humanos 19-20
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Cromossomos Humanos 4-5
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Transtornos Cromossômicos
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Dis Child
Ano de publicação:
1975
Tipo de documento:
Article