Proximal interstitial 6q deletion: a recognizable syndrome.

Article

Proximal interstitial 6q deletion: a recognizable syndrome.

American journal of medical genetics - 22 Aug 1997

Kumar R, Riordan D, Dawson A J, Chudley A E

Abstract excerpt

We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with th...

Topics

Abnormalities, Multiple
Child
Chromosome Deletion
Chromosomes, Human, Pair 6
Collagen Diseases
Face
Humans
Intellectual Disability
Male
Phenotype
Syndrome

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