3q29 microdeletion syndrome
Last updated 2 Aug 2023
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3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.
Description
3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.
The features associated with 3q29 microdeletion syndrome vary widely. Some individuals with this chromosomal change have very mild or no related signs and symptoms, and the deletion is discovered through genetic testing only after a family member is diagnosed. However, most people with a 3q29 microdeletion have delayed development (particularly speech delay) and mild or moderate intellectual disability. They also have an increased risk of neurodevelopmental or psychiatric disorders, including autism spectrum disorder (which affects social interaction and communication), anxiety, bipolar disorder, and schizophrenia.
Infants with 3q29 microdeletion syndrome often have feeding difficulties and do not grow and gain weight at the expected rate (which is described as failure to thrive). Weak muscle tone (hypotonia), recurrent ear infections, an unusually small head (microcephaly), and yellowing of the skin and whites of the eyes (jaundice) can also occur. Some affected babies are born with a heart defect, most commonly an abnormal connection between two major arteries called patent ductus arteriosus (PDA).
Other possible features of 3q29 microdeletion syndrome include gastrointestinal disorders, such as a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), and abnormalities of the teeth. There may also be a subtle pattern of characteristic facial features, including a long, narrow face; a narrow space between the nose and upper lip (short philtrum); a high bridge of the nose; and large ears.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Other names
3q subtelomere deletion syndrome
3q29 deletion syndrome
3q29 recurrent deletion
Chromosome 3q29 deletion syndrome
Microdeletion 3q29 syndrome
Monosomy 3q29
Further reading and references
- 3q29 microdeletion syndrome; MedlinePlus, National Library of Medicine.
- Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet. 2008 Apr 28;1:8. doi: 10.1186/1755-8166-1-8.
- Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1.
- Cox DM, Butler MG. A clinical case report and literature review of the 3q29 microdeletion syndrome. Clin Dysmorphol. 2015 Jul;24(3):89-94. doi: 10.1097/MCD.0000000000000077.
- Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry. Am J Med Genet A. 2016 Apr;170A(4):999-1006. doi: 10.1002/ajmg.a.37537. Epub 2016 Jan 6.
- Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet. 2010 Aug 13;87(2):229-36. doi: 10.1016/j.ajhg.2010.07.013.
- Mulle JG. The 3q29 deletion confers >40-fold increase in risk for schizophrenia. Mol Psychiatry. 2015 Sep;20(9):1028-9. doi: 10.1038/mp.2015.76. Epub 2015 Jun 9. No abstract available.
- Murphy MM, Lindsey Burrell T, Cubells JF, Espana RA, Gambello MJ, Goines KCB, Klaiman C, Li L, Novacek DM, Papetti A, Sanchez Russo RL, Saulnier CA, Shultz S, Walker E, Mulle JG. Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. BMC Psychiatry. 2018 Jun 8;18(1):183. doi: 10.1186/s12888-018-1760-5.
- Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25.
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