Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome)

2007 ◽  
Vol 16 (3) ◽  
pp. 177-179 ◽  
Author(s):  
Patricia Foley ◽  
Fionnuala McAuliffe ◽  
Marice Mullarkey ◽  
William Reardon
Keyword(s):  
Antenatal Diagnosis ◽  
Chromosome 11 ◽  
Jacobsen Syndrome

scholarly journals Jacobsenov sindrom

2015 ◽  
Vol 84 (11) ◽  
Author(s):  
Milena Treiber ◽  
Tanja Dukić Vuković ◽  
Veronika Kropivšek
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosome 11 ◽  
Partial Deletion ◽  
Jacobsen Syndrome ◽  
Carrier Mother

Jacobsen syndrome is a gene syndrome caused by partial deletion of the long arm of chromosome 11.About 20% of children die during the first two years of life, most commonly realated to complications from congenital heart disease, less commonly from bleeding.The authors present a male newborn that inhereted unbalanced deletion from a carrier mother.  

Antenatal diagnosis of ade novo paracentric inversion of chromosome 11

1987 ◽  
Vol 7 (1) ◽  
pp. 1-5 ◽  
Author(s):  
Frank S. Grass ◽  
James C. Parke ◽  
John C. Hisley
Keyword(s):  
Antenatal Diagnosis ◽  
Paracentric Inversion ◽  
Chromosome 11

scholarly journals Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

2009 ◽  
Vol 2 (1) ◽  
pp. 26 ◽  
Author(s):  
Emmanouil Manolakos ◽  
Sandro Orru ◽  
Rosita Neroutsou ◽  
Konstantinos Kefalas ◽  
Eirini Louizou ◽  
...  
Keyword(s):  
Clinical Investigation ◽  
Chromosome 11 ◽  
Partial Deletion ◽  
Jacobsen Syndrome

scholarly journals Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

2016 ◽  
Vol 8 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Alexandra Galvão Gomes ◽  
Carlos H. Paiva Grangeiro ◽  
Luiz R. Silva ◽  
Flávia G. Oliveira-Gennaro ◽  
Ciro S. Pereira ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 11 ◽  
Jacobsen Syndrome

scholarly journals Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1197
Author(s):  
Raquel Rodríguez-López ◽  
Fátima Gimeno-Ferrer ◽  
Elena Montesinos ◽  
Irene Ferrer-Bolufer ◽  
Carola Guzmán Luján ◽  
...  
Keyword(s):  
Respiratory Infections ◽  
Signs And Symptoms ◽  
Mendelian Inheritance ◽  
Copy Number Variations ◽  
Phenotypic Characterization ◽  
Nucleotide Polymorphisms ◽  
Chromosome 11 ◽  
Human Phenotype ◽  
Jacobsen Syndrome ◽  
Low Levels

Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematological alterations. Complete and partial JBS are differentiated depending on which functional and causal genes are haploinsufficient in the patient. We describe the case of a 6-year-old Bulgarian boy in which it was possible to identify all of the major signs and symptoms listed by the Online Mendelian Inheritance in Man (OMIM) catalog using the Human Phenotype Ontology (HPO). Extensive blood and marrow tests revealed the existence of thrombocytopenia and leucopenia, specifically due to low levels of T and B cells and low levels of IgM. Genetic analysis using whole-genome single nucleotide polymorphisms (SNPs)/copy number variations (CNVs) microarray hybridization confirmed that the patient had the deletion arr[hg19]11q24.3q25(128,137,532–134,938,470)x1 in heterozygosis. This alteration was considered causal of partial JBS because the essential BSX and NRGN genes were not included, though 30 of the 96 HPO identifiers associated with this OMIM were identified in the patient. The deletion of the FLI-1, ETS1, JAM3 and THYN1 genes was considered to be directly associated with the immunodeficiency exhibited by the patient. Although immunodeficiency is widely accepted as a major sign of JBS, only constipation, bone marrow hypocellularity and recurrent respiratory infections have been included in the HPO as terms used to refer to the immunological defects in JBS. Exhaustive functional analysis and individual monitoring are required and should be mandatory for these patients.

scholarly journals A rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome

2020 ◽  
Vol 19 (3) ◽  
pp. 114-120
Author(s):  
N. B. Kuzmenko ◽  
O. A. Shvets ◽  
A. A. Mukhina
Keyword(s):  
Clinical Phenotype ◽  
Psychomotor Retardation ◽  
Physical Growth ◽  
Facial Dysmorphism ◽  
Combined Immunodeficiency ◽  
Chromosome 11 ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Broad Nasal Bridge

Jacobsen syndrome (JS) is a rare combined immunodeficiency caused by partial deletion of the long arm of chromosome 11. Clinical features include physical growth retardation, psychomotor retardation, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small low set ears). Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Abnormal platelet function and immunological problems are usually present. Here we describe a patient with deletion of 11(q) chromosome resulting in clinical phenotype of the facial dysmorphisms, congenital malformations, neurological symptoms, as well as clinical and laboratory features of immunodeficiency. Features of immune dysregulation in a patient with JS are clearly characterized. Patient's parents agreed to use personal dats and photos in research and publications.

scholarly journals Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

2014 ◽  
Vol 8 ◽  
pp. CMPed.S18121
Author(s):  
Frenny J. Sheth ◽  
Chaitanya Datar ◽  
Joris Andrieux ◽  
Anand Pandit ◽  
Darshana Nayak ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Large Deletion ◽  
Comparative Genomic ◽  
Chromosome 11 ◽  
Balanced Translocation ◽  
Facial Profile ◽  
Aberrant Chromosome ◽  
Jacobsen Syndrome ◽  
Normal Father ◽  
11Q Deletion

Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11.8–11.9 Mb at 11q24.1q25 (case 1) and 13.9–14 Mb deletion at 11q23.3q25 together with 7.3–7.6 Mb duplication at 12q24.32q24.33 (case 2). Dysmorphism because of the partial duplication of 12q was not overtly decipherable over the Jacobsen phenotype except for a triangular facial profile. Aberrant chromosome 11 was inherited from phenotypically normal father, carrier of balanced translocation 46,XY,t(11;12)(q23.3; q24.32). In the present study, both cases had phenotypes that were milder than the ones described in literature despite having large deletion size. Most prominent features in classical JBS is thrombocytopenia, which was absent in both these cases. Therefore, detailed functional analysis of terminal 11q region is warranted to elucidate etiology of JBS and their clinical presentation.

scholarly journals AN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROMEAN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROME

2021 ◽  
Vol 9 (07) ◽  
pp. 947-953
Author(s):  
Sushma Kumari ◽  
◽  
Hanna Hedleen ◽  
Keyword(s):  
De Novo ◽  
Psychomotor Retardation ◽  
Clinical Findings ◽  
Physical Growth ◽  
Facial Dysmorphism ◽  
Chromosome 11 ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Intellectual Deficit

Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Jacobsen syndrome is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from 07 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q 23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis.

scholarly journals Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q

1999 ◽  
Vol 9 (1) ◽  
pp. 44-52
Author(s):  
Alan Tunnacliffe ◽  
Christopher Jones ◽  
Denis Le Paslier ◽  
Roger Todd ◽  
Dora Cherif ◽  
...  
Keyword(s):  
High Resolution ◽  
Trinucleotide Repeat ◽  
Fragile Site ◽  
Physical Map ◽  
Chromosome Breakage ◽  
Chromosome 11 ◽  
Jacobsen Syndrome ◽  
Distal Chromosome ◽  
Yac Contig ◽  
Chromosome Breakpoint

Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3–11q24.2. 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. The majority of such breakpoints, however, map distal to this fragile site and are not linked with its expression. To characterize these distal breakpoints and ultimately to further investigate the mechanisms of chromosome breakage, a 40-Mb YAC contig covering the distal long arm of chromosome 11 was assembled. The utility of the YAC contig was demonstrated in three ways: (1) by rapidly mapping the breakpoints from two new Jacobsen syndrome patients using FISH; (2) by demonstrating conversion to high resolution PAC contigs after direct screening of PAC library filters with a YAC clone containing a Jacobsen syndrome breakpoint; and (3) by placing 23 Jacobsen syndrome breakpoints on the physical map. This analysis has suggested the existence of at least two new Jacobsen syndrome breakpoint cluster regions in distal chromosome 11.

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