The Importance of Multidisciplinary Approach and Early Genetic Testing In a Patient With 7Q11.23 Duplication Syndrome. A Case Report
Ivan Akimovski[1], Bojan Bogdanovski[2], Gjorgji Bozhinovski[3], Biljana Shishova[4],
Nora Abazi Emini[1], Velibot Tasic[1], Dijana Plaseska-Karanfilska[3]
2 GASPAR – Center for Psychophysical Health, Skopje, North Macedonia
3 Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Arts and Sciences, Skopje, North Macedonia
4 PZU Kardiomedika Srbinovski, Skopje, North Macedonia
Presenting author e-mail: ivancheznnn@gmail.com
Contact e-mail of other authors: vtasic2003@gmail.com
Background: 7q11.23 duplication syndrome is defined as
heterozygous recurrent duplication of the William-Beuren syndrome critical
region (WBSCR), a 1.5 to 1.8 Mb-long region, containing 26 genes. It is a rare
disease, affecting 1:7500 to 20000 people.
Here we report a case of a 9-year-old boy who firstly presented with hypotonia,
delayed developmental of speech and motor skills, followed by ADD, resulting in
severe difficulties in daily activities and social behavior. Despite
developmental delay, patients often have congenital heart defects, unilateral
renal agenesis and other congenital anomalies.
Results: The patient has a small fund of words, where
the vocabulary does not correspond to the age. He has difficulties in
understanding, structuring and expressing linguistic thought. Lack of
concentration, attention and focus are also noted. The patient has severe
difficulties in reading and writing. Cardiac examination, ultrasound of the
heart and viscera did not reveal any abnormality. The aCGH testing revealed a
pathogenic de novo duplication in the WBSCR, 1.6 Mb in size, in the proband’s
sample.
Conclusion: Multidisciplinary approach and early genomic
testing is absolutely needed in these patients and it can have a great positive
effect if integrated from the earliest age.
Key words: 7q11 duplication syndrome, aCGH development delay
Topic: Rare diseases
Контакт:
e-mail: slp.bojan@gmail.com
Instagram: @slp.bojan
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