Disease: Chromosome 3- monosomy 3q27
- "Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype
- 3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature
- 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
- A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
- An additional patient with 3q27.3 microdeletion syndrome
- An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation
- BCL6 alternative breakpoint region break and homozygous deletion of 17q24 in the nodular lymphocyte predominance type of Hodgkin's lymphoma-derived cell line DEV
- BCL6 gene rearrangement and other cytogenetic abnormalities in diffuse large cell lymphoma
- Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia
- Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome
- Deletion 3q27----3qter associated with a new skin disorder?
- Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions
- Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region
- Establishment of an undifferentiated leukemia cell line (Kasumi-3) with t(3;7)(q27;q22) and activation of the EVI1 gene
- Frequent deletion of chromosome 3 in malignant sporadic pancreatic endocrine tumors
- Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)
- Increased number of chromosomal imbalances and high-level DNA amplifications in mantle cell lymphoma are associated with blastoid variants
- Infantile presentation of 3q26.33-3q27.2 deletion syndrome
- Omphalocele in trisomy 3q: further delineation of phenotype
- Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features
- Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report
- Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome
- Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
- Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2
- Small deletions occur in highly conserved regions of the LAZ3/BCL6 major translocation cluster in one case of non-Hodgkin's lymphoma without 3q27 translocation