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Microdeletion 3q29 Syndrome


Presentation

  • Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly.[ncbi.nlm.nih.gov]
  • We report on two individuals that further expand the clinical presentation of this rare disorder and compare the findings with earlier reports to refine the 3q29 microdeletion syndrome phenotype.[ncbi.nlm.nih.gov]
  • They presented with congenital cardiac defects including patent ductus arteriosus. In addition, the patient had subvalvular aortic stenosis and his father had pulmonic stenosis.[ncbi.nlm.nih.gov]
  • We present a review of the literature for the 3q29 microdeletion syndrome by comparing both the phenotype and the genetic defects in reported cases.[ncbi.nlm.nih.gov]
Falling
  • A similar situation occurs in rare rearrangements of 17p11.2 associated with Smith-Magenis syndrome, in which the breakpoints do not fall within the paired segmental duplications that flank most deletions of this region or appear to be mediated by known[doi.org]
Nasal Voice
  • voice 1 1 2/15 Six lumbar vertebrae 0 1 1/15 Cerebral sigmoid venous thrombosis 0 1 1/15 We also identified 19 individuals with microduplications of 3q29 (Fig. 1C ).[doi.org]
Failure to Thrive
  • 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).[ghr.nlm.nih.gov]
  • Although not a major cause of mortality in the developed world, it can lead to poor feeding, failure to thrive and impaired survival in places where healthcare resources are poor.[patient.info]
  • Referral to clinical genetics is recommended if: there is a family history of learning disability or craniofacial dysmorphism or associated congenital malformation or significant abnormality in prenatal or postnatal growth (overgrowth, failure to thrive[nhslothian.scot.nhs.uk]
  • Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. 2013 Oct 15;529(1):65-8. doi: 10.1016/j.gene.2013.06.056. Epub 2013 Jul 27. Abstract here.[pathology.ucla.edu]
Widely Spaced Teeth
  • High-arched palate, widely spaced teeth, clumsy gait, head banging, macrocephaly, patent ductus arteriosus, chest cavity deformity, and hypospadias were identified in one or two individuals (Table 1 ).[doi.org]
Almond-Shaped Eyes
  • eyes, mandibular hypoplasia, and tapered fingers.[ashg.org]
Low-Set Posteriorly Rotated Ears
  • Mild/moderate mental retardation 7 8 15/15 Long, narrow face 0 3 3/15 Short philtrum 0 6 6/15 High nasal bridge 4 5 9/15 Large, low-set, posteriorly rotated ears 4 1 5/15 Speech delay 3 5 8/15 Delayed walking 2 5 7/15 Autism/autistic features 1 3 4/15[doi.org]
Head Banging
  • High-arched palate, widely spaced teeth, clumsy gait, head banging, macrocephaly, patent ductus arteriosus, chest cavity deformity, and hypospadias were identified in one or two individuals (Table 1 ).[doi.org]
Suicidal Ideation
  • The propositi are a 10-year-old female and a 15-year-old male, who have in common intellectual disabilities, a history of autism and psychiatric symptoms ranging from bipolar disorder presenting with increasing suicidal ideation to aggressive behavior[ncbi.nlm.nih.gov]
  • The proband is a 10 year-old female with a history of autism and schizophrenia versus bipolar disorder presenting with increasing suicidal ideation, and dysmorphic features including: epicanthal folds, a broad nasal bridge with a prominent metopic suture[ashg.org]
Psychiatric Symptoms
  • The propositi are a 10-year-old female and a 15-year-old male, who have in common intellectual disabilities, a history of autism and psychiatric symptoms ranging from bipolar disorder presenting with increasing suicidal ideation to aggressive behavior[ncbi.nlm.nih.gov]
Long, Narrow Face
  • 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. 3q29 microdeletion syndrome appears to be[ghr.nlm.nih.gov]
  • However, most individuals exhibit mildly dysmorphic features, including a long, narrow face, short philtrum, high nasal bridge, and large ears.[doi.org]
Beaked Nose
  • The major phenotypic features involve nearly all of the systems, including the head and neck (microcephaly, dolichocephaly, trigonocephaly, retro-micrognathia, large abnormally shaped posteriorly rotated and low-set ears, prominent or beaked nose, broad[biomedsearch.com]
Hyperactivity
  • The patient has language-based learning disabilities and behavioral features consistent with diagnoses of autism and attention deficit hyperactivity disorder (ADHD) of the inattentive type.[en.wikipedia.org]
  • Other, less common, behavior problems that have been noted include hyperactivity, attention deficit hyperactivity disorder (ADHD), aggression, and autism spectrum disorder.[portal.bsc.gwu.edu]
  • […] and 50% cases Cleft lip Commonly - More than 50% cases Small for gestational age Not very common - Between 30% and 50% cases Prominent nose Commonly - More than 50% cases Pectus carinatum Not very common - Between 30% and 50% cases Attention deficit hyperactivity[mendelian.co]
  • Etiology Repetitive behavior and severe communication and social interaction deficits, stereotypic movements, intermittent aggressivity, hyperactivity, attention deficit disorder, obsessive-compulsive disorder and sleep disturbances are the characteristic[orpha.net]
Gait Ataxia
  • Autism and gait ataxia have been noted occasionally. Congenital malformations are not common: there are only rare reports of horseshoe kidney, hypospadias and congenital heart defects (patent ductus arteriosus).[orpha.net]
  • Genetic and developmental anomalies Chromosomal diseases Constitutional deletions 3q29 microdeletion syndrome Synopsis mild-to-moderate mental retardation slightly dysmorphic facial features long and narrow face short philtrum high nasal bridge autism gait[humpath.com]
  • Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients.[ncbi.nlm.nih.gov]
  • MalaCards based summary : Chromosome 3q29 Deletion Syndrome, also known as 3q29 microdeletion syndrome, is related to 3q29 recurrent deletion and leukemia, and has symptoms including gait ataxia An important gene associated with Chromosome 3q29 Deletion[malacards.org]
Language Delays
  • The clinical features common to three or more individuals in our cohort include microcephaly or small head, large low-set and posteriorly rotated ears, wide nasal bridge, and language delay.[doi.org]
  • Most individuals have moderate to severe speech and language delay. Behavior problems are frequently noted and can include sleep disturbances, autism spectrum disorder, apathy, and self-injury.[portal.bsc.gwu.edu]

Workup

  • The workup required for individual tests and families varies considerably, so the lab may require some advance warning even after a test request has been approved.[nhslothian.scot.nhs.uk]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Diagnosis of 3q29 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing. [4] Treatment is based on signs and symptoms of each person and may include surgeries to repair any physical abnormalities, speech therapy, behavior[rarediseases.info.nih.gov]
  • Once these mechanisms are understood, treatments can be developed to target specific molecular pathways for therapeutic advances.[books.google.com]

Prognosis

  • Prognosis he prognosis depends on the malformations (cardiac, cerebral or intestinal) associated with the 2q37 deletion. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Treatment takes place over several years as the child grows and the palate and dentition develop. However, it is possible to achieve a normal appearance, and normal speech and eating habits, early in the process.[patient.info]
  • Triple Hit Lymphoma: Rare Cases with Less Dire than Usual Prognosis. Int J Surg Pathol. 2016 Dec;24(8):709-714. Epub 2016 Jun 29. PMID: 27363433. Abstract here.[pathology.ucla.edu]

Etiology

  • Etiology The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. The microdeletion is commonly 1.6 Mb in length and encompasses more than 20 genes.[orpha.net]
  • These genes are related to neuronal postsynaptic membrane function and PTEN signaling, suggesting a role for synaptic connectivity dysfunction in the etiology of autism in these children.[ncbi.nlm.nih.gov]
  • Elsevier Health Sciences , 18 ago. 2013 - 979 páginas Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.es]
  • Elsevier Health Sciences , 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.de]

Epidemiology

  • Summary Epidemiology It has been described in 23 patients. Clinical description The clinical phenotype is extremely variable.[orpha.net]
  • This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism[books.google.com]
  • Summary Epidemiology Incidence is estimated at less than 1 in 10,000 and more than 100 individuals have been reported.[orpha.net]
  • An epidemiological study in 2012 looked at 30 countries from 2002 to 2006 and suggested a worldwide incidence of around 0.8/1,000 live births, about half the rates reported in older literature. [ 3 ] CLP is more common in Asian populations and in Native[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • The novel clinical presentation of our patients expands the clinical spectrum of the 3q29 microdeletion syndrome and provides additional insights into the pathophysiology of autism and psychiatric disorders. Copyright 2010 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • The novel clinical presentation of our patients expands the clinical spectrum of the 3q29 microdeletion syndrome and provides additional insights into the pathophysiology of autism and psychiatric disorders. To Access Article, Click Here[empiregenomics.com]
  • This project will help us to understand the core pathophysiology underlying neurodevelopment and neuropsychiatric phenotypes.[grantome.com]

Prevention

  • Vincent Hospital, Indianapolis, IN, USA (6) Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS, USA (7) Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA (8) The Children's Hospital of[doi.org]
  • Published on behalf of the Royal College of Psychiatrists, the journal’s overriding concern is to improve the prevention, investigation, diagnosis, treatment, and care of mental illness, as well as the promotion of mental health globally.[bjp.rcpsych.org]
  • Prevention Identification of modifiable risk factors is the first step towards primary prevention: Pre-pregnancy planning seems to reduce risk.[patient.info]

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