Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

doi:10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O

Back to search

Article

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

American journal of medical genetics - 11 Dec 1996

Juyal R C, Kuwano A, Kondo I, Zara F, Baldini A, Patel P I

Abstract excerpt

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cytogenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybridiz...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 17
Humans
In Situ Hybridization, Fluorescence
Mosaicism
Phenotype
Syndrome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.