Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
Am J Med Genet
; 98(4): 317-9, 2001 Feb 01.
Article
em En
| MEDLINE
| ID: mdl-11170074
ABSTRACT
We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using fluorescence in situ hybridization (FISH), we located the breakpoints in the 1.5-Mb area defined by YAC 753f5 (5q35.2) and within the approximately 2-Mb interval between 10cen and YAC 933a3 (10q11.21).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Congênitas
/
Translocação Genética
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Cromossomos Humanos Par 5
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Cromossomos Humanos Par 10
Limite:
Child, preschool
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Female
/
Humans
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article