Complete trisomy 10p resulting from an extra stable telocentric chromosome

Lozić, Bernarda; Čulić, Viktor; Lasan, Ružica; Tomasović, Maja; Šamija, Radenka Kuzmanić; Zemunik, Tatijana

doi:10.1002/ajmg.a.35384

Cited by 5 publications

(6 citation statements)

References 14 publications

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“…One of the cousins showed diffuse thymic hyperplasia (patient 20) without evidence of developing thymoma. Although patients with complete 10p trisomy are not reported to have immunodeficiency [ 36 , 37 ], patients with terminal deletions of 10p have been reported with IgA- and IgG-deficiency before [ 21 , 38 ]. The 18q − syndrome is associated with IgA-deficiency and other autoimmune or immunodeficiency diseases, such as common variable immunodeficiency (CVID) [ 39 ], juvenile rheumatic arthritis [ 40 ], insulin-dependent diabetes mellitus [ 41 ], celiac disease [ 42 ] and thyroid hormone abnormalities [ 43 ].…”

Section: Discussionmentioning

confidence: 99%

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Schatorjé

Flier

Seppänen

et al. 2016

Orphanet J Rare Dis

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BackgroundPatients 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.MethodsAll 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.ResultsForty-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.ConclusionsOur 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0492-1) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Schatorjé

Flier

Seppänen

et al. 2016

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…One of the cousins showed diffuse thymic hyperplasia (patient 20) without evidence of developing thymoma. Although patients with complete 10p trisomy are not reported to have immunodeficiency [36,37], patients with terminal deletions of 10p have been reported with IgAand IgG-deficiency before [21,38]. The 18q − syndrome is associated with IgA-deficiency and other autoimmune or immunodeficiency diseases, such as common variable immunodeficiency (CVID) [39], juvenile rheumatic arthritis [40], insulin-dependent diabetes mellitus [41], celiac disease [42] and thyroid hormone abnormalities [43].…”

Section: Discussionmentioning

confidence: 99%

Primary Immunodeficiency Associated With Chromosomal Aberration – An Esid Survey

Vries¹

2016

Preprint

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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.

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“…Neonatal respiratory distress has been reported in cases of del(10q) [24]. Lozić et al [25] examined complete trisomy 10p syndrome and described a patient's physical defects such as dolichocepahly, cleft lip and palate, microcephaly, hypotonia, flat nasal bridge, clubfoot anomaly, marbled skin, and atrial septal defect.…”

Section: Discussionmentioning

confidence: 99%

An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

Lee¹,

Park²,

Lee³

et al. 2015

J Genet Med

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JGM of trisomy 10p are severe mental and growth retardation, craniofacial anomalies (high forehead, hypertelorism, upward slant of the palpebral fissures, and cleft lip and palate), and other organ malformations (cardiac and renal anomaly) and skeletal abnormalities (clubfoot and flexion abnormalities). Since Lewandowsky et al. [7] reported the deletion in the long arm of chromosome 10, over 60 cases of interstitial or terminal 10q deletion ranging from 10q23-q26 resulting from familial translocations or other chromosomal anomalies have been identified. The main clinical manifestations of terminal deletion of 10q syndrome are typical facial dysmorphisms, mental and An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

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Complete trisomy 10p resulting from an extra stable telocentric chromosome

Cited by 5 publications

References 14 publications

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Primary Immunodeficiency Associated With Chromosomal Aberration – An Esid Survey

An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

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