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

Trent Burgess, Natasha J Brown, Zornitza Stark, Damien L Bruno, Ralph Oertel, Belinda Chong, Vanessa Calabro, Andrew Kornberg, Christine Sanderson, Julian K Kelly, Katherine B Howell, Ravi Savarirayan, Rupert Michael Hinds, Anthea Greenway, Howard Slater, Susan M White

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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 phenotype features of individuals with this microdeletion to include mild to moderate developmental delay or intellectual disability, postnatal short stature, anemia, and cryptorchidism in males.
Original languageEnglish
Pages (from-to)77 - 86
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
Publication statusPublished - 2014

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