Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

American Journal of Medical Genetics. Part a
Trent BurgessSusan M White

Abstract

A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond-Blackfan anemia. We report on four further patients and define the core phenotypic features of individuals with this microdeletion to include mild to moderate developmental delay or intellectual disability, postnatal short stature, anemia, and cryptorchidism in males. CDH and structural organ malformations appear to be less frequent associations, as is venous thrombosis. There is no consistent facial dysmorphism. Features novel to our patient group include dextrocardia, obstructive sleep apnea, and cleft lip.

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Citations

Jul 20, 2017·Molecular Biology of the Cell·Alyssa J MathiowetzKenneth G Campellone
Mar 28, 2019·PLoS Genetics·Flavia A M MaggioliniFrancesca Antonacci
Apr 6, 2021·Epilepsia·UNKNOWN Epilepsy Phenome/Genome Project, Epi4K Consortium
Jun 11, 2021·BMC Medical Genomics·Trenell J MosleyJennifer G Mulle
Jul 22, 2021·Molecular Cytogenetics·Peter R PapenhausenAndrea Penton

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