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

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.

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

International Journal of Advanced Research ◽

10.21474/ijar01/13197 ◽

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.

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Jacobsenov sindrom

Slovenian Medical Journal ◽

10.6016/zdravvestn.1277 ◽

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.

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Recurrent spontaneous intracranial hemorrhage in a patient with Jacobsen syndrome

Neurology Clinical Practice ◽

10.1212/cpj.0000000000000963 ◽

2020 ◽

pp. 10.1212/CPJ.0000000000000963

Author(s):

Neil Suryadevara ◽

Rashid Ahmed ◽

Ahmed El Dokla

Keyword(s):

Heart Defects ◽

Terminal Deletion ◽

Upper Lip ◽

Platelet Dysfunction ◽

Nasal Bridge ◽

Jacobsen Syndrome ◽

Spontaneous Intracranial Hemorrhage ◽

Neonatal Thrombocytopenia ◽

Broad Nasal Bridge ◽

I Gene

Jacobsen syndrome (JS) is an 11q terminal deletion disorder. Affected individuals have developmental delay, cognitive impairment, heart defects, hypertelorism, broad nasal bridge, and a thin upper lip. Most patients with JS have Paris-Trousseau syndrome (PTS), which is characterized by neonatal thrombocytopenia and persistent platelet dysfunction due to 11q terminal deletion including FLI-I gene causing platelet alpha-granule abnormalities.1

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Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽

10.1515/med-2018-0064 ◽

2018 ◽

Vol 13 (1) ◽

pp. 433-435 ◽

Cited By ~ 1

Author(s):

Chun Zhu ◽

Mei-Ling Tong ◽

Xia Chi

Keyword(s):

Mental Retardation ◽

Case Report ◽

Bone Age ◽

Chromosome 7 ◽

Facial Features ◽

Mild Mental Retardation ◽

Partial Deletion ◽

Nasal Bridge ◽

Case Presentations ◽

Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

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Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Journal of Medical Genetics ◽

10.1136/jmg.14.6.438 ◽

1977 ◽

Vol 14 (6) ◽

pp. 438-444 ◽

Cited By ~ 40

Author(s):

A Schinzel ◽

P Auf der Maur ◽

H Moser

Keyword(s):

Clinical Findings ◽

Chromosome 11 ◽

Partial Deletion ◽

Jacobsen Syndrome

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

Molecular Cytogenetics ◽

10.1186/1755-8166-2-26 ◽

2009 ◽

Vol 2 (1) ◽

pp. 26 ◽

Cited By ~ 5

Author(s):

Emmanouil Manolakos ◽

Sandro Orru ◽

Rosita Neroutsou ◽

Konstantinos Kefalas ◽

Eirini Louizou ◽

...

Keyword(s):

Clinical Investigation ◽

Chromosome 11 ◽

Partial Deletion ◽

Jacobsen Syndrome

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Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

Frontiers in Pediatrics ◽

10.3389/fped.2021.603666 ◽

2021 ◽

Vol 9 ◽

Author(s):

Yu-qing Pan ◽

Jian-hua Fu

Keyword(s):

Cognitive Deficits ◽

Rare Case ◽

Clinical Phenotype ◽

Speech Disorders ◽

Psychomotor Retardation ◽

Partial Deletion ◽

Motor Delay ◽

Feeding Difficulties ◽

Clinical Description ◽

Submicroscopic Deletion

Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the ZMYND11 and DIP2C genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3–10p13, which is the second case of large 10p deletion among reported cases thus far.

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Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

Acta geneticae medicae et gemellologiae ◽

10.1017/s000156600000951x ◽

1978 ◽

Vol 27 ◽

pp. 57-66 ◽

Cited By ~ 11

Author(s):

B. Dallapiccola ◽

Franca Dagna Bricarelli ◽

A. Rasore Quartino ◽

Maria Cristina Mazzilli ◽

Rosanna Chisci ◽

...

Keyword(s):

Mental Retardation ◽

De Novo ◽

Psychomotor Retardation ◽

Facial Dysmorphism ◽

Chromosome 6 ◽

Craniofacial Abnormalities ◽

Nasal Bridge ◽

Growth Deficiency ◽

Biparietal Diameter ◽

The Face

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21→qter had segregated from a maternal translocation t(6 ; 16)(q15 ; q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221→qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221→qter.

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Rubinstein-Taybi Syndrome: A Case Report

Case Reports in Dentistry ◽

10.1155/2012/483867 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

A. P. Münevveroglu ◽

B. B. Akgöl

Keyword(s):

Case Report ◽

Dental Treatment ◽

Treatment Plan ◽

Genetic Disorder ◽

Mental Deficiency ◽

Mentally Retarded ◽

Facial Dysmorphism ◽

Nasal Bridge ◽

Dental Management ◽

Broad Nasal Bridge

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge, and beaked nose. Intraoral features observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report.

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