[Analysis of a girl with Phelan-McDermid syndrome]
1Fetal Medicine Center, the Third Affiliated Hospital of Southern Medical University, Guangzhou, Guangdong 510630, China. wbzs5319753@163.com.
Objective:
To explore the value of single nucleotide polymorphism (SNP) array for molecular diagnosis.
Methods:
A Chinese girl suspected for Phelan-McDermid syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and fluorescence in situ hybridization (FISH) assaying.
Results:
G-banding karyotype analysis has found no abnormality in the girl and her parents. SNP array detected a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by FISH. The same deletion was not found in either parent. FISH analysis found that her father has carried a balance t(4;22) translocation.
Conclusion:
SNP-array has the advantage of high resolution and accuracy, which is valuable for the diagnosis of microdeletion or microduplication syndromes.
Related Concept Videos
Nephrotic Syndrome I : Introduction
Acute Coronary Syndrome I: Introduction
Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
Restless Leg Syndrome and Night Terrors
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
Acute Coronary Syndrome V: Nursing Management
Nephrotic Syndrome II : Assessment and Medical Management


