Trisomy 8q

A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 1

                      


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PMID (PMCID)
6733948
FEMALE Infant, Newborn
Five generations of t(4;8)(q35;q13) leading to a case of partial 8q trisomy with consideration of potential pregnancy outcomes from translocation carriers.
Young RS, Hansen KL, Khodr GS.
Clin Genet. 1984;25(6):522-7.
We describe a female infant with partial trisomy 8q who has microphthalmia, a cleft palate, micrognathia and a heart defect.