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Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
Author(s) -
Burgess Trent,
Brown Natasha J.,
Stark Zornitza,
Bruno Damien L.,
Oertel Ralph,
Chong Belinda,
Calabro Vanessa,
Kornberg Andrew,
Sanderson Christine,
Kelly Julian,
Howell Katherine B.,
Savarirayan Ravi,
Hinds Rupert,
Greenway Anthea,
Slater Howard R.,
White Susan M.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36203
Subject(s) - phenotype , biology , genetics , gene
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. © 2013 Wiley Periodicals, Inc.