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15q13.3 microdeletion syndrome

MedGen UID:
393784
Concept ID:
C2677613
Congenital Abnormality
Synonyms: 15q13.3 Microdeletion; CHROMOSOME 15q13.3 DELETION SYNDROME; CHROMOSOME 15q13.3 MICRODELETION SYNDROME
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: 15q13.3 deletion syndrome (699254009); 15q13.3 microdeletion (699254009)
 
Cytogenetic location: 15q13.3
OMIM: 612001

Disease characteristics

Excerpted from the GeneReview: 15q13.3 Microdeletion
Individuals with 15q13.3 microdeletion are at increased risk for a wide range of clinical manifestations including intellectual disability, cardiac malformations, seizures, autism, and schizophrenia; however, the deletion itself does not seem to lead to a clinically recognizable syndrome and a subset of persons with the deletion have no obvious clinical findings. Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. Intellectual disability, observed in about half of the individuals with the common deletion at 15q13.3, is usually mild but can be moderate to severe.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Bregje WM van Bon  |  Heather C Mefford  |  Bert BA de Vries   view full author information

Additional descriptions

From OMIM
Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).  http://www.omim.org/entry/612001
From GHR
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features. About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy. 15q13.3 microdeletion has also been associated with behavioral problems, including a short attention span, aggression, impulsive behavior, and hyperactivity. Some people with a 15q13.3 microdeletion have been diagnosed with developmental disorders that affect communication and social interaction (autism spectrum disorders). This chromosomal change may also be associated with an increased risk of psychiatric disorders, particularly schizophrenia. Other signs and symptoms of 15q13.3 microdeletion can include heart defects, minor abnormalities involving the hands and arms, and subtle differences in facial features. Some people with a 15q13.3 microdeletion do not have any of the intellectual, behavioral, or physical features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have an affected relative. It is unknown why a 15q13.3 microdeletion causes cognitive and behavioral problems in some individuals but few or no health problems in others.  http://ghr.nlm.nih.gov/condition/15q133-microdeletion

Clinical features

Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Abnormal facial shape
MedGen UID:
505048
Concept ID:
CN001810
Finding
An abnormal morphology (form) of the face or its components.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the `pinna` (FMA:56580), which is also referred to as the auricle or external ear.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
IQ 20-34.
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Intellectual disability, mild
MedGen UID:
504770
Concept ID:
CN001151
Finding
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Specific learning disability
MedGen UID:
504802
Concept ID:
CN001216
Finding
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Intellectual disability, moderate
MedGen UID:
505205
Concept ID:
CN002126
Finding
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Melanocytic nevus
MedGen UID:
504679
Concept ID:
CN000931
Finding
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Malformation of the heart and great vessels
MedGen UID:
428300
Concept ID:
CN002327
Finding
Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROG15q13.3 microdeletion syndrome

Recent clinical studies

Etiology

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC
Neurology 2013 Oct 22;81(17):1507-14. Epub 2013 Sep 25 doi: 10.1212/WNL.0b013e3182a95829. [Epub ahead of print] PMID: 24068782Free PMC Article
McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA
Clinics (Sao Paulo) 2012 Aug;67(8):917-21. PMID: 22948460Free PMC Article
Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ
Eur J Hum Genet 2012 Mar;20(3):283-90. Epub 2011 Nov 2 doi: 10.1038/ejhg.2011.187. [Epub ahead of print] PMID: 22045295Free PMC Article
Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I
Epilepsia 2011 Dec;52(12):e194-8. Epub 2011 Nov 2 doi: 10.1111/j.1528-1167.2011.03301.x. [Epub ahead of print] PMID: 22050399Free PMC Article

Diagnosis

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC
Neurology 2013 Oct 22;81(17):1507-14. Epub 2013 Sep 25 doi: 10.1212/WNL.0b013e3182a95829. [Epub ahead of print] PMID: 24068782Free PMC Article
Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M
Am J Med Genet A 2013 Oct;161(10):2582-7. Epub 2013 Aug 8 doi: 10.1002/ajmg.a.36085. [Epub ahead of print] PMID: 23929658
McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Le Pichon JB, Yu S, Kibiryeva N, Graf WD, Bittel DC
Eur J Hum Genet 2013 Oct;21(10):1093-9. Epub 2013 Jan 30 doi: 10.1038/ejhg.2013.1. [Epub ahead of print] PMID: 23361223Free PMC Article
Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ
Eur J Hum Genet 2012 Mar;20(3):283-90. Epub 2011 Nov 2 doi: 10.1038/ejhg.2011.187. [Epub ahead of print] PMID: 22045295Free PMC Article

Therapy

Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA
Clinics (Sao Paulo) 2012 Aug;67(8):917-21. PMID: 22948460Free PMC Article

Prognosis

Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M
Am J Med Genet A 2013 Oct;161(10):2582-7. Epub 2013 Aug 8 doi: 10.1002/ajmg.a.36085. [Epub ahead of print] PMID: 23929658
McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA
Clinics (Sao Paulo) 2012 Aug;67(8):917-21. PMID: 22948460Free PMC Article

Clinical prediction guides

McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Le Pichon JB, Yu S, Kibiryeva N, Graf WD, Bittel DC
Eur J Hum Genet 2013 Oct;21(10):1093-9. Epub 2013 Jan 30 doi: 10.1038/ejhg.2013.1. [Epub ahead of print] PMID: 23361223Free PMC Article
Calounova G, Hedvicakova P, Silhanova E, Kreckova G, Sedlacek Z
Am J Med Genet A 2008 Aug 1;146A(15):1955-62. doi: 10.1002/ajmg.a.32416. PMID: 18627056
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE
Nat Genet 2008 Mar;40(3):322-8. Epub 2008 Feb 17 doi: 10.1038/ng.93. [Epub ahead of print] PMID: 18278044Free PMC Article

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