New insights into the phenotypes of 6q deletions.

Article

New insights into the phenotypes of 6q deletions.

American journal of medical genetics - 27 Jun 1997

Hopkin R J, Schorry E, Bofinger M, Milatovich A, Stern H J, Jayne C, Saal H M

Abstract excerpt

Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including trun...

Topics

Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 6
Ear
Female
Growth Disorders
Humans
Karyotyping
Male
Muscle Hypotonia
Phenotype

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