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GENATLAS PHENOTYPE

last update : 07-11-2012

Symbol	DEL11QD
Location	11q24.3
HGNC id	6194
Name	chromosome 11q distal deletion syndrome
Other name(s)	Jacobsen syndrome partial 11q monosomy syndrome
Corresponding gene	FLI1 , JAM3 , ETS1
Other symbol(s)	JBS
Main clinical features	developmental delay/cognitive impairment trigonocephaly, broad nasal bridge, hypertelorism, low set dysmorphic ears, carp shaped mouth, ptosis congenital heart diseases (HLH), urogenital anomalies, thrombocytopenia Trousseau type and pancytopenia, short stature, structural CNS malformations, undescended testes, recurrent infections eye anomalies and hearing loss in some patients
Genetic determination	chromosomal
Prevalence	<1/100 000, male to female ratio of 1:2
Function/system disorder	multisystem/generalized
	mental retardation
Type	MCA/MR

Gene product

Name

contiguous gene syndrome

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments

	deletion		usually terminal, ranging from ~7Mb to 20Mb, the larger deletions have a breakpoint in q23.3 near the fragile site FRA11B
	translocation		unbalanced, monosomy 11q associated with variable trisomy for another chromosome

Remark(s)

Genotype/Phenotype correlations

a) deletion of at least 3 of the 4 platelet function critical genes (ETS-1, FLI-1 and NFRKB and JAM3) is necessary for thrombocytopenia; b) one of the critical regions for heart abnormalities (conotruncal heart defects) may lie within 129.03 - 130.6 Mb; c) deletions of KCNJ1 and ADAMTS15 may contribute to the renal anomalies in Jacobsen Syndrome; d) the critical region for MRI abnormalities involves a region from 124.6 - 129.03 Mb, PMID: 19000322..

trigonocephaly is not present in patients with a breakpoint distal to q24.2 ;

subtelomeric 11q deletions can be associated with mild to moderate learning difficulties and specific facial features, namely hypertelorism, down-slanting palpebral fissures and ptosis