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Journals / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 4

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome

Semra GÜRSOY
Yaşar Bekir KUTBAY
Taha Reşid ÖZDEMİR
Filiz HAZAN
Pages
589–593
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We suggest that our findingssupport understanding and updating knowledge on the phenotype-genotypecorrelation in patients with 2q37 deletion syndrome.

📌 3 Key Takeaways

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Objective & Hypothesis:Chromosome 2q37 deletion syndrome is a rare chromosomal disorder whichis characterized by mild-moderate intellectual disability, brachymetaphalangyof digits 3-5, short stature, obesity, hypotonia and characteristic facialappearance.
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Key Findings & Data:Here, we report three Turkish patients who have 2q37 deletion inaCGH analysis with various sizes (9.08 Mb, 2.3 Mb and 2.021 Mb, respectively).HDAC4 gene, which is a class II histone deacetylase, has been considered tobe associated with most of the features including brachymetaphalangy andintellectual disability.
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Conclusion & Impact:We suggest that our findingssupport understanding and updating knowledge on the phenotype-genotypecorrelation in patients with 2q37 deletion syndrome.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder whichis characterized by mild-moderate intellectual disability, brachymetaphalangyof digits 3-5, short stature, obesity, hypotonia and characteristic facialappearance. Here, we report three Turkish patients who have 2q37 deletion inaCGH analysis with various sizes (9.08 Mb, 2.3 Mb and 2.021 Mb, respectively).HDAC4 gene, which is a class II histone deacetylase, has been considered tobe associated with most of the features including brachymetaphalangy andintellectual disability. The deletion region included HDAC4 gene in the twopatients. However, all of the patients had intellectual disability, especially witha cheerful mood. Some autistic features were detected in one of our patients.Although two patients had some skeletal findings, the deletion region didnot contain HDAC4 gene in one of the patients. We suggest that our findingssupport understanding and updating knowledge on the phenotype-genotypecorrelation in patients with 2q37 deletion syndrome.

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Cite This Article

GÜRSOY, S., KUTBAY, Y. B., ÖZDEMİR, T. R., HAZAN, F. (2019). The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 4, 589–593. https://ajindex.com/articles/412027

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References (8)

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