Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.

doi:10.1136/jmg.35.12.1047

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Article

Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.

Journal of medical genetics - 1 Dec 1998

Melis D, Perone L, Sperandeo M P, Sabbatino M S, Tuzzi M R, Romano A, Parenti G, Andria G

Abstract excerpt

We report on a 21 month old child referred to us because of facial dysmorphism and psychomotor retardation. The patient's phenotype was characterised by a wide and receding forehead, broad nasal bridge, redundant retronuchal skin, low set and poorly shaped ears, micrognathia, and small hands and...

Topics

Chromosome Deletion
Chromosomes, Human, Pair 1
Face
Female
Humans
Infant
Male
Pedigree
Phenotype

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