Disease: Chromosome 3- monosomy 3p25
- A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation
- A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome
- A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype
- Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review
- Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome
- De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability
- De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus
- Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region
- Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
- Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent <em>in Situ</em> Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangeme
- Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
- Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome: further evidence for the role of SRGAP3 in mental retardation
- Lacrimal drainage anomalies in 3p deletion syndrome
- Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
- Microdeletion on 3p25 in a patient with features of 3p deletion syndrome
- Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
- Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes