Diagnosis of Pallister–Killian syndrome by array comparative genome hybridization from a spleen sample

2011 ◽  
Vol 20 (1) ◽  
pp. 58-60 ◽  
Author(s):  
Victoria Harrison ◽  
Rosy Williams ◽  
Lyndsey Connell ◽  
Usha Kini
2009 ◽  
Vol 120 (2) ◽  
pp. 355-367 ◽  
Author(s):  
André Beló ◽  
Mary K. Beatty ◽  
David Hondred ◽  
Kevin A. Fengler ◽  
Bailin Li ◽  
...  

2014 ◽  
Vol 155 (40) ◽  
pp. 1598-1601
Author(s):  
Balázs Duga ◽  
Márta Czakó ◽  
Katalin Komlósi ◽  
Kinga Hadzsiev ◽  
Katalin Sümegi ◽  
...  

One of the most common psychiatric disorders during childhood is attention deficit hyperactivity disorder, which affects 5-6% of children worldwide. Symptoms include attention deficit, hyperactivity, forgetfulness and weak impulse control. The exact mechanism behind the development of the disease is unknown. However, current data suggest that a strong genetic background is responsible, which explains the frequent occurrence within a family. Literature data show that copy number variations are very common in patients with attention deficit hyperactivity disorder. The authors present a patient with attention deficit hyperactivity disorder who proved to have two approximately 400 kb heterozygous microduplications at 6p25.2 and 15q13.3 chromosomal regions detected by comparative genomic hybridization methods. Both duplications affect genes (6p25.2: SLC22A23; 15q13.3: CHRNA7) which may play a role in the development of attention deficit hyperactivity disorder. This case serves as an example of the wide spectrum of indication of the array comparative genome hybridization method. Orv. Hetil., 2014, 155(40), 1598–1601.


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