Variable phenotype and associations in chromosome 22q11.2 microdeletion

Derbent, Murat; Bikmaz, Yunus Emre; Yılmaz, Zerrin; Tokel, Kürşad

doi:10.1002/ajmg.a.31120

Cited by 8 publications

(3 citation statements)

References 13 publications

(14 reference statements)

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“…Our series also had one patient with atrial septal defect (ASD), a CHD uncommonly associated to 22q11DS [Momma, 2007]. None of the 28 patients with an abnormal karyotype tested by FISH had the 22q11 deletion, which is in agreement with the rare descriptions of this association [Derbent et al, 2006].…”

Section: Discussionsupporting

confidence: 82%

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa

Pilla²,

Pereira

et al. 2008

American J of Med Genetics Pt A

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The 22q11.2 deletion syndrome (22q11DS) is one of the most recognizable causes of congenital heart defects (CHDs), but the frequency varies in non-selected populations. The purpose of this study was to determine the incidence and clinical features of patients with CHD and 22q11DS admitted to a pediatric cardiology intensive care unit in Brazil. In a prospective study, we evaluated a consecutive series of 207 patients with a CHD following a clinical protocol and cytogenetic analysis by high resolution karyotype and fluorescent in situ hybridization (FISH). 22q11DS was identified in four patients (2%), a frequency similar to studies that evaluated subjects with major CHDs in other countries. Despite this similarity, we believe that the low rate of prenatal identification of CHDs and the limited access of these patients to appropriate diagnosis and care, which occur in our region, could have had an influence on this frequency. It is possible that 22q11DS patients with a severe CHD could have died before having a chance to access a tertiary hospital, leading to an underestimate of its frequency.

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Section: Discussionsupporting

confidence: 82%

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa

Pilla²,

Pereira

et al. 2008

American J of Med Genetics Pt A

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“…The importance of parent-of-origin has been well established for the 15q11 locus 30. By comparison, duplications and other rearrangements in the 15q11–q13 region can result in an autism and mental retardation phenotype, but are also observed in phenotypically normal individuals,31 underscoring the phenotypic variability common in many genomic imbalance disorders such as microduplications at 1q41q42,32 3q29,33 16p11.2,8 and 22q11 34…”

Section: Discussionmentioning

confidence: 99%

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Miller

Shen

Weiss

et al. 2008

Journal of Medical Genetics

306

236

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Background Segmental duplications at breakpoints (BP4–BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or EEG abnormalities. Patients DNA samples from 1,445 unrelated patients submitted consecutively for clinical array comparative genomic hybridisation (CGH) testing at Children’s Hospital Boston and DNA samples from 1,441 individuals with Autism from 751 families in the Autism Genetic Resource Exchange (AGRE) repository. Results We report the clinical features of five patients with a BP4-BP5 deletion, three with a BP4–BP5 duplication, and two with an overlapping but smaller duplication identified by whole genome high resolution oligonucleotide array CGH. These BP4–BP5 deletion cases exhibit minor dysmorphic features, significant expressive language deficits, and a spectrum of neuropsychiatric impairments that include autism spectrum disorder, ADHD, anxiety disorder, and mood disorder. Cognitive impairment varied from moderate mental retardation to normal IQ with learning disability. BP4–BP5 covers ~1.5Mb (chr15:28.719–30.298Mb) and includes 6 reference genes and 1 miRNA gene, while the smaller duplications cover ~500 kb (chr15:28.902–29.404 Mb) and contain 3 reference genes and one miRNA gene. The BP4–BP5 deletion and duplication events span CHRNA7, a candidate gene for seizures. However, none of these individuals reported here have epilepsy, although two have an abnormal EEG. Conclusions The phenotype of chromosome 15q13.2q13.3 BP4–BP5 microdeletion/duplication syndrome may include features of autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment. Recognition of this broader phenotype has implications for clinical diagnostic testing and efforts to understand the underlying etiology of this syndrome.

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“…Em casos raros, no entanto, existe a possibilidade de certos indivíduos apresentarem, concomitantemente, a SD22q11 e outra doença genética. Relatos da associação, por exemplo, da SD22q11 com a síndrome de Down são encontrados na literatura (27) , mas são incomuns.…”

Section: Manifestações Clínicasunclassified

Síndrome de deleção 22q11.2: compreendendo o CATCH22

Rosa¹,

Zen

Roman

et al. 2009

Rev. paul. pediatr.

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OBJETIVO:Realizar uma revisão dos aspectos históricos, epidemiológicos, clínicos, etiológicos e laboratoriais da síndrome de deleção 22q11.2, salientando-se a importância e as dificuldades do seu diagnóstico. FONTES DE DADOS: Pesquisa nas bases de dados Medline, Lilacs e SciELO, além da Internet e capítulos de livros em inglês, acerca de publicações feitas entre 1980 e 2008. Para isso, utilizaram-se os descritores "22q11", "DiGeorge", "Velocardiofacial" e "CATCH22". SÍNTESE DOS DADOS: A síndrome de deleção 22q11.2, também conhecida como síndrome de DiGeorge ou velocardiofacial, foi identificada no começo da década de 1990. A microdeleção 22q11.2 é considerada uma das síndromes de microdeleção genética mais frequentes em seres humanos. Caracteriza-se por um espectro fenotípico bastante amplo, com mais de 180 achados clínicos já descritos do ponto de vista físico e comportamental. Contudo, nenhum achado é patognomônico ou mesmo obrigatório. A maioria dos pacientes apresenta uma deleção pequena, detectada somente por técnicas de genética molecular, como a hibridização in situ fluorescente. Apresenta padrão de herança autossômico dominante, ou seja, indivíduos acometidos apresentam um risco de 50% de transmiti-la a seus filhos. CONCLUSÕES: Pacientes com a síndrome de deleção 22q11.2 frequentemente necessitam, ao longo de suas vidas, de um grande número de intervenções médicas e hospitalizações. O diagnóstico precoce é fundamental para a adequada avaliação e manejo clínico dos indivíduos e seus familiares.

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Variable phenotype and associations in chromosome 22q11.2 microdeletion

Cited by 8 publications

References 13 publications

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Síndrome de deleção 22q11.2: compreendendo o CATCH22

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