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Jacobsen Distal 11q Deletion Syndrome22q11 Deletion SyndromeChromosomes, Human, Pair 22DiGeorge SyndromeChromosome DeletionSyndromeAbnormalities, MultipleChromosomes, Human, Pair 11Velopharyngeal InsufficiencyGene DeletionChromosome DisordersChromosomes, Artificial, YeastCraniofacial AbnormalitiesIn Situ Hybridization, FluorescenceSequence DeletionIntellectual DisabilityChromosomes, Human, Pair 13KaryotypingChromosomes, Human, Pair 1Chromosome AberrationsChromosomes, Human, Pair 6

CongenitalThrombocytopeniaTerminalPartial22q11Hypoplastic left heaGeneticHeart defectsParis-TrousseauGeneDisorderAbnormalitiesClinicalDevelopmentalPeopleRareFeaturesResultsTerminal deletion disorderCalled Paris-Trousseau syndromeCongenitalChromosome deletion7q11.23ChromosomalGenesMutationsDuplicationsIntellectual disabilityAdulthoodSevereCondition causedPatientsLong armShort

Congenital2

• Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. (childrensmercy.org)
• A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. (medecinesciences.org)

Thrombocytopenia1

• A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion at 11q23. (medecinesciences.org)

Terminal1

• Because this deletion most commonly occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. (nih.gov)

Partial1

• Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. (nih.gov)

22q116

• 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
• Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
• 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
• This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
• Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
• Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)

Hypoplastic left hea3

• Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity. (ucsd.edu)
• Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. (ucsd.edu)
• Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. (ucsd.edu)

Genetic2

• Jacobsen syndrome is a condition caused by a loss (deletion) of genetic material from chromosome 11. (nih.gov)
• It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (sdsu.edu)

Heart defects1

• Complex heart defects are a leading cause of death in people with Jacobsen syndrome. (nih.gov)

Paris-Trousseau3

• More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. (nih.gov)
• Paris-Trousseau syndrome is a disorder of platelets, which are blood cells that are necessary for blood clotting. (nih.gov)
• Fli1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. (medecinesciences.org)

Gene1

• For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders. (nih.gov)

Disorder2

• Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity disorder (ADHD). (nih.gov)
• Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorder, which is characterized by impaired communication and socialization skills. (nih.gov)

Abnormalities3

• It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
• Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
• A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (sdsu.edu)

Clinical2

• Clinical and molecular characterization of patients with distal 11q deletions. (medecinesciences.org)
• The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome. (bvsalud.org)

Developmental2

• In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
• Hanel ML, Wevrick R. The role of genomic imprinting in human developmental disorders : lessons from Prader-Willi syndrome. (medecinesciences.org)

People1

• The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. (nih.gov)

Rare2

• Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. (bvsalud.org)
• Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous syndrome. (bvsalud.org)

Features1

• Jacobsen syndrome is also characterized by distinctive facial features. (nih.gov)

Results1

• Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results. (harvard.edu)

Terminal deletion disorder4

• most commonly occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. (medlineplus.gov)
• Jacobsen syndrome, also called the 11q terminal deletion disorder, is a contiguous gene disorder caused by the deletion of the end of the long arm of chromosome 11. (nih.gov)
• Comprehensive genotype/phenotype evaluations are limited, and little is known about specific behavioral characteristics associated with 11q terminal deletion disorder. (nih.gov)
• In this prospective study, 17 patients with 11q terminal deletion disorder underwent cognitive and behavioral assessments. (nih.gov)

Called Paris-Trousseau syndrome1

• More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. (medlineplus.gov)

Congenital2

• A clinically recognized congenital malformation condition caused by a distal 11q deletion. (nih.gov)
• A multiple congenital anomaly/mental retardation contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. (cdc.gov)

Chromosome deletion1

• Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children. (medlineplus.gov)

7q11.231

• Samanta D. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. (uams.edu)

Chromosomal1

• Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. (wikipedia.org)

Genes1

• The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. (medlineplus.gov)

Mutations1

• The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). (wikipedia.org)

Duplications1

• Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. (uams.edu)

Intellectual disability1

• Intellectual skills range from low average to severe/profound intellectual disability and usually correlate with deletion size. (nih.gov)

Adulthood1

• The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. (medlineplus.gov)

Severe1

• Larger deletions tend to cause more severe signs and symptoms than smaller deletions. (medlineplus.gov)

Condition caused2

• Jacobsen syndrome is a condition caused by a loss (deletion) of genetic material from chromosome 11. (medlineplus.gov)
• HN - 2008 MH - Acute Radiation Syndrome UI - D054508 MN - C21.866.733.188 MN - G3.850.810.300.360.158 MS - A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. (nih.gov)

Patients3

• Deletion sizes ranged from 8.7 to 14.5 Mb across the patients. (nih.gov)
• Peri-procedural risk stratification and management of patients with Williams syndrome. (uams.edu)
• This review provides an updated picture of the pathophysiological basis of the main forms of PO in children and adolescents, taking into account the most common among the rare syndromes causing PO and evaluating the main aspects of bone densitometry in these patients. (biomedcentral.com)

Long arm2

• Usually, the deletion occurs at the end of the long arm of the chromosome. (medlineplus.gov)
• Less commonly, the deletion occurs within the long arm of the chromosome, which is known as an interstitial deletion. (medlineplus.gov)

Short1

• A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). (jefferson.edu)

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