Lab Med Online.  2018 Apr;8(2):71-74. 10.3343/lmo.2018.8.2.71.

Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification

• Oh J
• Lee S
• Lee KA
• Yoo J

• KMID: 2407566
• DOI: http://doi.org/10.3343/lmo.2018.8.2.71

Abstract

No abstract available.

MeSH Terms

Diagnosis*
Humans
Intellectual Disability*
Multiplex Polymerase Chain Reaction*
Smith-Magenis Syndrome*

Figure

• 

  Fig. 1. (A) MLPA analysis (red: control, blue: patient) results reveal heterozygous deletion of DRC3, LLGL1, RAI1 gene on 17p11.2. (B) Confirm test covering more loci reveals heterozygous deletion of COPS3, RAI1, MIR33B, TOM1L2 gene on 17p11.2. Abbreviation: MLPA, Multiplex ligation-dependent probe amplification. ∗The name of the Leucine-rich repeat-containing protein 48 (LRRC48) gene has been changed to DRC3; †,‡RAI1 P and RAI1 PRO are different sets of primers of RAI1 gene. The names are randomly added with P and PRO as the analysis software requires different names with matching primers.

Reference

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