U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chromosome 3q29 microdeletion syndrome

MedGen UID:
393265
Concept ID:
C2674949
Disease or Syndrome
Synonyms: 3q29 Deletion Syndrome; 3q29 microdeletion syndrome; 3q29 Recurrent Microdeletion Syndrome; CHROMOSOME 3q29 DELETION SYNDROME
SNOMED CT: 3q29 microdeletion syndrome (716456000); 3q subtelomere deletion syndrome (716456000); Monosomy 3q29 (716456000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0012269
OMIM®: 609425
Orphanet: ORPHA65286

Disease characteristics

Excerpted from the GeneReview: 3q29 Recurrent Deletion
3q29 recurrent deletion is characterized by neurodevelopmental and/or psychiatric manifestations including mild-to-moderate intellectual disability (ID), autism spectrum disorder (ASD), anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), executive function deficits, graphomotor weakness, and psychosis/schizophrenia. Age at onset for psychosis or prodrome can be younger than the typical age at onset in the general population. Neurodevelopmental and psychiatric conditions are responsible for the majority of the disability associated with the 3q29 deletion. Other common findings are failure to thrive and feeding problems in infancy that persist into childhood, gastrointestinal disorders (including constipation and gastroesophageal reflux disease [GERD]), ocular issues, dental anomalies, and congenital heart defects (especially patent ductus arteriosus). Structural anomalies of the posterior fossa may be seen on neuroimaging. To date more than 200 affected individuals have been identified. [from GeneReviews]
Authors:
Jennifer Gladys Mulle  |  Michael J Gambello  |  Rossana Sanchez Russo, et. al.   view full author information

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome

Clinical features

From HPO
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Long fingers
MedGen UID:
346836
Concept ID:
C1858091
Finding
The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Autism
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Psychosis
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Stereotypic movement disorder
MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 3q29 microdeletion syndrome
Follow this link to review classifications for Chromosome 3q29 microdeletion syndrome in Orphanet.

Professional guidelines

PubMed

Shi P, Xia Y, Li Q, Kong X
J Obstet Gynaecol Res 2021 Mar;47(3):1002-1008. Epub 2021 Jan 20 doi: 10.1111/jog.14627. PMID: 33474820Free PMC Article

Recent clinical studies

Etiology

Shi P, Xia Y, Li Q, Kong X
J Obstet Gynaecol Res 2021 Mar;47(3):1002-1008. Epub 2021 Jan 20 doi: 10.1111/jog.14627. PMID: 33474820Free PMC Article
Baba M, Yokoyama K, Seiriki K, Naka Y, Matsumura K, Kondo M, Yamamoto K, Hayashida M, Kasai A, Ago Y, Nagayasu K, Hayata-Takano A, Takahashi A, Yamaguchi S, Mori D, Ozaki N, Yamamoto T, Takuma K, Hashimoto R, Hashimoto H, Nakazawa T
Neuropsychopharmacology 2019 Nov;44(12):2125-2135. Epub 2019 Jun 19 doi: 10.1038/s41386-019-0441-5. PMID: 31216562Free PMC Article
Khan WA, Cohen N, Scott SA, Pereira EM
BMC Med Genomics 2019 Mar 18;12(1):51. doi: 10.1186/s12920-019-0497-4. PMID: 30885185Free PMC Article
Viñas-Jornet M, Esteba-Castillo S, Baena N, Ribas-Vidal N, Ruiz A, Torrents-Rodas D, Gabau E, Vilella E, Martorell L, Armengol L, Novell R, Guitart M
Behav Genet 2018 Jul;48(4):323-336. Epub 2018 Jun 7 doi: 10.1007/s10519-018-9902-6. PMID: 29882083Free PMC Article
Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group
Am J Med Genet A 2016 Apr;170A(4):999-1006. Epub 2016 Jan 6 doi: 10.1002/ajmg.a.37537. PMID: 26738761Free PMC Article

Diagnosis

Coşkun C, Kardaş RC, Küçük H
Int J Rheum Dis 2023 Apr;26(4):778-780. Epub 2022 Dec 11 doi: 10.1111/1756-185X.14515. PMID: 36502530
Kaba D, Çelik ZY
Turk J Pediatr 2022;64(5):925-931. doi: 10.24953/turkjped.2020.3841. PMID: 36305444
Yue F, Deng S, Xi Q, Jiang Y, He J, Zhang H, Liu R
Medicine (Baltimore) 2021 Jan 8;100(1):e24224. doi: 10.1097/MD.0000000000024224. PMID: 33429816Free PMC Article
Khan WA, Cohen N, Scott SA, Pereira EM
BMC Med Genomics 2019 Mar 18;12(1):51. doi: 10.1186/s12920-019-0497-4. PMID: 30885185Free PMC Article
Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group
Am J Med Genet A 2016 Apr;170A(4):999-1006. Epub 2016 Jan 6 doi: 10.1002/ajmg.a.37537. PMID: 26738761Free PMC Article

Therapy

Chao PH, Chao MC, Hwang KP, Chung MY
Acta Paediatr 2009 Jan;98(1):195-8. Epub 2008 Sep 14 doi: 10.1111/j.1651-2227.2008.01037.x. PMID: 18795911

Prognosis

Baba M, Yokoyama K, Seiriki K, Naka Y, Matsumura K, Kondo M, Yamamoto K, Hayashida M, Kasai A, Ago Y, Nagayasu K, Hayata-Takano A, Takahashi A, Yamaguchi S, Mori D, Ozaki N, Yamamoto T, Takuma K, Hashimoto R, Hashimoto H, Nakazawa T
Neuropsychopharmacology 2019 Nov;44(12):2125-2135. Epub 2019 Jun 19 doi: 10.1038/s41386-019-0441-5. PMID: 31216562Free PMC Article
Viñas-Jornet M, Esteba-Castillo S, Baena N, Ribas-Vidal N, Ruiz A, Torrents-Rodas D, Gabau E, Vilella E, Martorell L, Armengol L, Novell R, Guitart M
Behav Genet 2018 Jul;48(4):323-336. Epub 2018 Jun 7 doi: 10.1007/s10519-018-9902-6. PMID: 29882083Free PMC Article
Dasouki MJ, Lushington GH, Hovanes K, Casey J, Gorre M
Am J Med Genet A 2011 Jul;155A(7):1654-60. Epub 2011 May 27 doi: 10.1002/ajmg.a.34080. PMID: 21626679Free PMC Article

Clinical prediction guides

Baba M, Yokoyama K, Seiriki K, Naka Y, Matsumura K, Kondo M, Yamamoto K, Hayashida M, Kasai A, Ago Y, Nagayasu K, Hayata-Takano A, Takahashi A, Yamaguchi S, Mori D, Ozaki N, Yamamoto T, Takuma K, Hashimoto R, Hashimoto H, Nakazawa T
Neuropsychopharmacology 2019 Nov;44(12):2125-2135. Epub 2019 Jun 19 doi: 10.1038/s41386-019-0441-5. PMID: 31216562Free PMC Article
Carroll LS, Williams HJ, Walters J, Kirov G, O'Donovan MC, Owen MJ
Am J Med Genet B Neuropsychiatr Genet 2011 Dec;156B(7):844-9. Epub 2011 Aug 17 doi: 10.1002/ajmg.b.31231. PMID: 21850710
Dasouki MJ, Lushington GH, Hovanes K, Casey J, Gorre M
Am J Med Genet A 2011 Jul;155A(7):1654-60. Epub 2011 May 27 doi: 10.1002/ajmg.a.34080. PMID: 21626679Free PMC Article
Clayton-Smith J, Giblin C, Smith RA, Dunn C, Willatt L
Clin Dysmorphol 2010 Jul;19(3):128-132. doi: 10.1097/MCD.0b013e32833a1e3c. PMID: 20453639
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
Am J Hum Genet 2005 Jul;77(1):154-60. Epub 2005 May 25 doi: 10.1086/431653. PMID: 15918153Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...