Trisomy 4 mosaicism: Delineation of the phenotype.
Am J Med Genet A
; 170A(4): 1040-5, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26789019
ABSTRACT
Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Trissomia
/
Cromossomos Humanos Par 4
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Holanda