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Chromosome 17q12 duplication syndrome

MedGen UID:
482767
Concept ID:
C3281137
Disease or Syndrome
Synonym: 17q12 Recurrent Microduplication
SNOMED CT: Chromosome 17q12 duplication syndrome (764435003); 17q12 duplication syndrome (764435003); 17q12 microduplication syndrome (764435003); Trisomy 17q12 (764435003)
 
Monarch Initiative: MONDO:0013796
OMIM®: 614526
Orphanet: ORPHA261272

Disease characteristics

Excerpted from the GeneReview: 17q12 Recurrent Duplication
The 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to severe disability and other variable clinical manifestations. Speech delay is common, and most affected individuals have some degree of hypotonia and gross motor delay. Behavioral and psychiatric conditions reported in some affected individuals include autism spectrum disorder, schizophrenia, and behavioral abnormalities (aggression and self-injury). Seizures are present in 75%. Additional common findings include microcephaly, ocular abnormalities, and endocrine abnormalities. Short stature and renal and cardiac abnormalities are also reported in some individuals. Penetrance is incomplete and clinical findings are variable. [from GeneReviews]
Authors:
Heather Mefford   view full author information

Additional description

From MedlinePlus Genetics
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.

Signs and symptoms related to 17q12 duplications vary significantly, even among members of the same family. Some individuals with the duplication have no apparent signs or symptoms, or the features are very mild. Other individuals can have intellectual disability, delayed development, and a wide range of physical abnormalities.

Intellectual and learning ability in people with 17q12 duplications ranges from normal to severely impaired. Many affected individuals have delayed development, particularly involving speech and language skills and gross motor skills such sitting, standing, and walking. Seizures are also common. Neurodevelopmental and psychiatric conditions that have been reported in people with 17q12 duplications include autism spectrum disorder (which affects social interaction and communication), schizophrenia, aggression, and self-injury. About half of affected individuals have an unusually small head (microcephaly).

Less commonly, 17q12 duplications have been associated with abnormalities of the eyes, heart, kidneys, and brain. Some individuals with this chromosomal change have subtle differences in facial features, although these are not consistent.  https://medlineplus.gov/genetics/condition/17q12-duplication

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Esophageal atresia
MedGen UID:
4545
Concept ID:
C0014850
Congenital Abnormality
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Facial hypotonia
MedGen UID:
336889
Concept ID:
C1845251
Finding
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Cleft soft palate
MedGen UID:
98471
Concept ID:
C0432098
Congenital Abnormality
Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Irido-corneo-trabecular dysgenesis
MedGen UID:
91031
Concept ID:
C0344559
Congenital Abnormality
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 17q12 duplication syndrome
Follow this link to review classifications for Chromosome 17q12 duplication syndrome in Orphanet.

Professional guidelines

PubMed

Xi Q, Zhu X, Wang Y, Ru T, Dai C, Wang Z, Li J, Hu Y
Prenat Diagn 2016 May;36(5):463-8. Epub 2016 Apr 2 doi: 10.1002/pd.4807. PMID: 26941192

Recent clinical studies

Etiology

Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Milone R, Tancredi R, Cosenza A, Ferrari AR, Scalise R, Cioni G, Battini R
Genes (Basel) 2021 Oct 21;12(11) doi: 10.3390/genes12111660. PMID: 34828266Free PMC Article
Zhou CX, Zhu XY, Zhu YJ, Gu LL, He LL, Liu W, Yang Y, Wu X, Duan HL, Ru T, Li J
Taiwan J Obstet Gynecol 2021 Mar;60(2):232-237. doi: 10.1016/j.tjog.2021.01.001. PMID: 33678321
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L
Am J Med Genet A 2016 Nov;170(11):2934-2942. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37848. PMID: 27409573
Li R, Fu F, Zhang YL, Li DZ, Liao C
Taiwan J Obstet Gynecol 2014 Dec;53(4):579-82. doi: 10.1016/j.tjog.2014.05.004. PMID: 25510704

Diagnosis

Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Zhou CX, Zhu XY, Zhu YJ, Gu LL, He LL, Liu W, Yang Y, Wu X, Duan HL, Ru T, Li J
Taiwan J Obstet Gynecol 2021 Mar;60(2):232-237. doi: 10.1016/j.tjog.2021.01.001. PMID: 33678321
Kamath A, Linden SC, Evans FM, Hall J, Jose SF, Spillane SA, Hardie ADR, Morgan SM, Pilz DT
Am J Med Genet B Neuropsychiatr Genet 2018 Jul;177(5):520-528. doi: 10.1002/ajmg.b.32643. PMID: 30134084
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L
Am J Med Genet A 2016 Nov;170(11):2934-2942. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37848. PMID: 27409573
Bierhals T, Maddukuri SB, Kutsche K, Girisha KM
Am J Med Genet A 2013 Feb;161A(2):352-9. Epub 2013 Jan 10 doi: 10.1002/ajmg.a.35730. PMID: 23307502

Prognosis

Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Berberich AJ, Wang J, Cao H, McIntyre AD, Spaic T, Miller DB, Stock S, Huot C, Stein R, Knoll J, Yang P, Robinson JF, Hegele RA
Can J Diabetes 2021 Feb;45(1):71-77. Epub 2020 Jun 8 doi: 10.1016/j.jcjd.2020.06.001. PMID: 33011132
Hardies K, Weckhuysen S, Peeters E, Holmgren P, Van Esch H, De Jonghe P, Van Paesschen W, Suls A
Neurology 2013 Oct 15;81(16):1434-40. Epub 2013 Sep 18 doi: 10.1212/WNL.0b013e3182a84163. PMID: 24049133

Clinical prediction guides

Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L
Am J Med Genet A 2016 Nov;170(11):2934-2942. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37848. PMID: 27409573

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