Combined immunodeficiency in a 3‐year‐old boy with 16p11.2 and 20p12.2‐11.2 chromosomal duplications

Batanian, Jacqueline R.; Braddock, Stephen R.; Christensen, Katherine; Knutsen, Alan P.

doi:10.1002/ajmg.a.36305

Cited by 6 publications

(10 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is important to note that this duplication is very similar in size and in close proximity to the 0.797 Mb duplication found in the 20p12.2 region of our patient's genome. Another case report in 2013 discussed a patient with a 7.8 Mb duplication in the 20p12.2–11.23 region of the genome [ 20 ]. This patient also presented with congenital heart disease (ASD), which was also documented in our patient [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…Another case report in 2013 discussed a patient with a 7.8 Mb duplication in the 20p12.2–11.23 region of the genome [ 20 ]. This patient also presented with congenital heart disease (ASD), which was also documented in our patient [ 20 ]. Comparing our patient to the cases we have explored in the literature, we hypothesize that the 20p12.2 portion of the genome may serve as a critical region that when duplicated, results in the cardiac anomalies and other defects seen in our patient and other cases of chromosome 20p duplication discussed in this report.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Khattak

Jan²,

Warsi

et al. 2020

Case Reports in Genetics

View full text Add to dashboard Cite

Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing. JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Khattak

Jan²,

Warsi

et al. 2020

Case Reports in Genetics

View full text Add to dashboard Cite

show abstract

“…Hence, it is not feasible to pinpoint a gene that plays a major role in the proband's phenotype. Partial 20p duplication remains a rare diagnosis; only two smaller 20p microduplications that overlap with the genomic region duplicated in our proband have been reported previously [Moog et al, ; Batanian et al, ]. The report by Moog et al described three members of a family with proximal 20p duplication between 20p11.23 and 20p11.21; these individuals displayed the characteristic features of Alagille syndrome and none of them showed obvious neurological involvement [Moog et al, ].…”

Section: Discussionmentioning

confidence: 47%

Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

Izumi

Kubota

Arakawa

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Clinical phenotypes in individuals with a supernumerary marker chromosome (SMC) are mainly caused by gene dosage effects due to the genes located on the SMC. An additional effect may result from uniparental disomy (UPD). Consequently, the occurrence of UPD may be a confounding factor in identifying genotype-phenotype correlations in SMC syndromes. Here, we report on a patient that illustrates this problem; the phenotype of this patient was a consequence of a combined effect of gene dosage and UPD. The proband showed facial dysmorphisms, growth retardation and developmental delay. G-band karyotype of the proband's peripheral blood showed the presence of mosaic SMC. A SNP array analysis documented maternal UPD20 and 20p duplication. It is known that maternal UPD20 causes prenatal onset growth retardation and feeding difficulties. By contrast, duplication of 20p causes facial dysmorphisms, micrognathia, cleft palate, developmental delay and vertebral anomalies. Our classification of the proband's phenotype showed a mixture of these two effects. Therefore, we suggest the routine use of genome-wide SNP array towards the detailed genotype-phenotype correlations for SMC syndromes.

show abstract

“…10 15 NHS Grampian, Aberdeen, Scotland. 16 Department of Pediatrics and Adolescent Medicine, Center for Congenital Immunodeficiencies, Medical University Vienna, Wien, Austria. 17 Pediatric Hematology-Oncology, Medical University Graz, Graz, Austria.…”

Section: Acknowledgmentsmentioning

confidence: 99%

“…Also, Turner syndrome [8] and Wolf-Hirschhorn syndrome [9] are known to be associated with immunodeficiency. In the past ten years, thirteen cases, three patient series and two families with other chromosomal aberrations and immunological abnormalities have been described in the literature [10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27]. There is one study that screened patients with dysmorphic disorders for immune defects.…”

Section: Introductionmentioning

confidence: 99%

Primary Immunodeficiency Associated With Chromosomal Aberration – An Esid Survey

Vries¹

2016

Preprint

View full text Add to dashboard Cite

Background: Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study. Methods: All members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency. An online questionnaire was used to collect the patient data. Results: Forty-six patients were included from 16 centers (24 males, 22 females; median age 10.4 years [range 1.0-69. 2 years]; 36 pediatric, 10 adult patients). A variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immune deficiency was reported. The most important clinical presentation prompting the immunological evaluation was 'recurrent ear-nose-throat (ENT) and airway infections'. Immunoglobulin isotype and/or IgG-subclass deficiencies were the most prevalent immunological abnormalities reported. Conclusions: Our survey yielded a wide variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immunodeficiency. Although respiratory tract infections can often also be ascribed to other causes (e.g. aspiration or structural abnormalities), we show that a significant proportion of patients also have an antibody deficiency requiring specific treatment (e.g. immunoglobulin replacement, antibiotic prophylaxis). Therefore, it is important to perform immunological investigations in patients with chromosomal aberrations and recurrent ENT or airway infections, to identify potential immunodeficiency that can be specifically treated.

show abstract

Combined immunodeficiency in a 3‐year‐old boy with 16p11.2 and 20p12.2‐11.2 chromosomal duplications

Cited by 6 publications

References 28 publications

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

Primary Immunodeficiency Associated With Chromosomal Aberration – An Esid Survey

Contact Info

Product

Resources

About