Two cases of partial trisomy 4p and partial trisomy 14q.
Ann Lab Med
; 33(1): 69-74, 2013 Jan.
Article
em En
| MEDLINE
| ID: mdl-23301226
ABSTRACT
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 31 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
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Base de dados:
MEDLINE
Assunto principal:
Trissomia
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Anormalidades Múltiplas
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Cromossomos Humanos Par 4
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Cromossomos Humanos Par 14
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article