Clinical diagnosis of partial duplication 7q.
Am J Med Genet
; 37(2): 254-7, 1990 Oct.
Article
em En
| MEDLINE
| ID: mdl-2248294
ABSTRACT
We report on two sibs with partial dup (7q), a retarded 9-month-old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormality. Because his mother carries a balanced, de novo translocation with a breakpoint in band 7q33, the boy has a duplication of the distal portion of band 7q33 and the segment 7q34----qter. Our findings suggest that the phenotype in terminal duplications of 7q may, in some patients, be recognized clinically.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 7
/
Aberrações Cromossômicas
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1990
Tipo de documento:
Article