Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.
Hum Genet
; 34(3): 319-22, 1976 Dec 15.
Article
em En
| MEDLINE
| ID: mdl-1002156
ABSTRACT
A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype 45,XY,--22,5p--,t(5p22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Aberrações Cromossômicas
/
Cromossomos Humanos 21-22 e Y
/
Cromossomos Humanos 4-5
/
Síndrome de Cri-du-Chat
/
Aneuploidia
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1976
Tipo de documento:
Article