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Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.

ABSTRACT: BACKGROUND:Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients' phenotypes remains unknown. CASE PRESENTATION:We describe female patient with de novo 1,08 Mb deletion in 10p15.3 region, similar to the patient nr seven reported by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012) but with more severe clinical features. Our patient demonstrated speech and motor delay, dysmorphic features, brain abnormalities and Tetralogy of Fallot with pulmonary atresia. CONCLUSIONS:This case shows the importance of collection of more patients with deletion in order to obtain a more precise physical map of 10p region.

SUBMITTER: Poluha A

PROVIDER: S-EPMC5588601 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.

Poluha Anna A Bernaciak Joanna J Jaszczuk Ilona I Kędzior Marta M Nowakowska Beata Anna BA

Molecular cytogenetics 20170907

<h4>Background</h4>Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients' phenotypes remains unknown.<h4>Case presentation</h4>We describe female patient with de novo 1,08 Mb dele ...[more]

PMID: 28912834

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