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Jacobsen Distal 11q Deletion Syndrome

Subscribe to New Research on Jacobsen Distal 11q Deletion Syndrome

A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.

Also Known As:

11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q23 Deletion Disorder; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome; Paris-Trousseau Thrombocytopenia; Deletion Disorder, 11q; Deletion Disorder, 11q23; Disorder, 11q Deletion; Disorder, 11q23 Deletion; Paris Trousseau Syndrome; Paris Trousseau Thrombocytopenia; Syndrome, 11q Deletion; Syndrome, Jacobsen; Syndrome, Paris-Trousseau; Thrombocytopenia, Jacobsen; Thrombocytopenia, Paris-Trousseau; 11q Deletion Disorder; Jacobsen Syndrome

Networked: 22 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mental Retardation (Idiocy)
2.	Jacobsen Distal 11q Deletion Syndrome
3.	Thrombocytopenia (Thrombopenia)
4.	Pervasive Child Development Disorders
5.	Genetic Predisposition to Disease (Genetic Predisposition)

Experts

1.	Grossfeld, Paul: 2 articles (11/2010 - 01/2009)
2.	Brighton, Timothy A: 1 article (10/2015)
3.	Mackay, Joel P: 1 article (10/2015)
4.	Morel-Kopp, Marie-Christine: 1 article (10/2015)
5.	Chen, Qiang: 1 article (10/2015)
6.	Beutler, Lucinda: 1 article (10/2015)
7.	Stevenson, William S: 1 article (10/2015)
8.	Rabbolini, David J: 1 article (10/2015)
9.	Gabrielli, Sara: 1 article (10/2015)
10.	Ward, Christopher M: 1 article (10/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jacobsen Distal 11q Deletion Syndrome:

1.	Transcription Factors (Transcription Factor)IBA 07/01/2004 - "An especially rare condition called Paris-Trousseau syndrome (PTS) seems to occur by virtue of hemizygous loss of the FLI1 transcription factor gene. " 09/27/2012 - "MYH10 was also detected in platelets of patients with the Paris-Trousseau syndrome, a thrombocytopenia related to the deletion of the transcription factor FLI1 that forms a complex with RUNX1 to regulate megakaryopoiesis, whereas MYH10 persistence was not observed in other inherited forms of thrombocytopenia. "
2.	Immunoglobulins (Immunoglobulin)IBA 01/01/2015 - "Recently dysfunction of KIRREL3, a synaptic molecule of the immunoglobulin superfamily, has been implicated in several neurodevelopmental conditions including intellectual disability, autism spectrum disorder, and in the neurocognitive delay associated with Jacobsen syndrome. " 01/01/2015 - "Neph2, also known as Kirrel3, is an immunoglobulin superfamily adhesion molecule implicated in intellectual disability, neurocognitive delay associated with Jacobsen syndrome, and autism spectrum disorders. "
3.	Folic Acid (Vitamin M)FDA LinkGeneric 01/01/1999 - "Inheritance of an expanded p(CCG)n trinucleotide repeat at the folate-sensitive fragile site FRA11B has been implicated in the generation of the chromosome breakpoint in several Jacobsen syndrome patients. " 01/01/2008 - "The large size of the distal deleted 11q segment in our patients support the recent hypothesis, that Jacobsen syndrome is a chromosomal deletion syndrome with genetic predisposition, due to expansion of p(CCG)n trinucleotide in the folate-sensitive fragile site FRA11B, at breakpoint 11q23.3. In conclusion, identification and further delineation of more similar patients will contribute to understanding the genetic basis of the 11q phenotype."
4.	X fragile site folic acid typeIBA 09/01/2012 - "Although FRAXA and FRAXE have been found to be associated with mental retardation and FRA11B possibly with Jacobsen syndrome, no other autosomal fragile site has yet been found to have a direct correlation with a genetic disorder; however, the frequency of fragile sites in infertile couples has been reported to be higher than in a control group. " 01/01/2008 - "FRAXE is associated with X-linked non-specific mental retardation, and FRA11B with Jacobsen syndrome. "
5.	Janus Kinase 3IBA 06/01/2010 - "Janus kinase 3 missense mutation in a child with Jacobsen syndrome."
6.	NeurograninIBA 04/01/2009 - "Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)."
7.	A-Form DNA (A-DNA)IBA 10/22/2015 - "Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1."
8.	Growth Hormone (Somatotropin)IBA 09/01/1996 - "Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases."
9.	Serotonin (5 Hydroxytryptamine)IBA 11/01/2007 - "Platelets from six patients with Jacobsen syndrome were markedly diminished in serotonin adenine nucleotide rich dense bodies, indicating the presence of platelet storage pool deficiency. "
10.	Retinaldehyde (Retinal)IBA 01/01/2007 - "The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. "

Therapies and Procedures

1.	Blalock-Taussig Procedure 10/01/2011 - "Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia."
2.	Enteral Nutrition (Feeding, Tube) 01/01/2009 - "Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. "