A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?

Article

A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?

Genetic counseling (Geneva, Switzerland) - 1 Jan 1996

van Buggenhout G, Decock P, Fryns J P

Abstract excerpt

We describe a 15-months-old female child with proximal 10q trisomy due to direct duplication 10q11 --> q223. Reviewing the literature a further delineation of the clinical phenotype of this rare chromosomal abnormality is proposed. The main clinical features associated with 10q11-q22 duplication...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 10
Face
Female
Humans
Infant
Intellectual Disability
Microcephaly
Phenotype
Trisomy

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