title: Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
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.
authors.affiliation: Victorian Clinical Genetics Service, MCRI, Royal Children's Hospital, Parkville, Australia.
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.forename: Natasha J
authors.initials: NJ
authors.lastname: Brown
authors.forename: Zornitza
authors.initials: Z
authors.lastname: Stark
authors.forename: Damien L
authors.initials: DL
authors.lastname: Bruno
authors.forename: Ralph
authors.initials: R
authors.lastname: Oertel
authors.forename: Belinda
authors.initials: B
authors.lastname: Chong
authors.forename: Vanessa
authors.initials: V
authors.lastname: Calabro
authors.forename: Andrew
authors.initials: A
authors.lastname: Kornberg
authors.forename: Christine
authors.initials: C
authors.lastname: Sanderson
authors.forename: Julian
authors.initials: J
authors.lastname: Kelly
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Howell
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: Rupert
authors.initials: R
authors.lastname: Hinds
authors.forename: Anthea
authors.initials: A
authors.lastname: Greenway
authors.forename: Howard R
authors.initials: HR
authors.lastname: Slater
authors.forename: Susan M
authors.initials: SM
authors.lastname: White
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome
keywords: 15q25.2; RPS17L; anemia; intellectual disability; microdeletion; short stature