Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations

Ulgiati, Fiorenza; Nicita, Francesco; Papetti, Laura; Ursitti, Fabiana; Maggio, Annalisa Di; Tarani, Luigi; Spalice, Alberto

doi:10.1007/s00431-013-2039-y

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…Trisomies 13 and 18 are the chromosomal abnormalities most consistently associated with CH [Rosati and Guariglia, ; Lin et al, ]. Less consistent associations include for example, trisomy 21, partial trisomy 12q and monosomy 21q, trisomy 17 mosaicism, monosomy 1p36, ring chromosome 6, X;8 translocation and sex chromosomal anomalies (e.g., X monosomy) [Ulgiati et al, ].…”

Section: Classification Of Cerebellar Hypoplasiamentioning

confidence: 99%

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

Poretti¹,

Boltshauser

Doherty

2014

American J of Med Genetics Pt C

120

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Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and adenylosuccinase deficiency), genetic syndromes (e.g., Ritscher-Schinzel, Joubert, and CHARGE syndromes), and brain malformations (primary posterior fossa malformations e.g., Dandy-Walker malformation, pontine tegmental cap dysplasia and rhombencephalosynapsis, or global brain malformations such as tubulinopathies and α-dystroglycanopathies). Secondary (disruptive) conditions include prenatal infections (e.g., cytomegalovirus), exposure to teratogens, and extreme prematurity. The distinction between malformations and disruptions is important for pathogenesis and genetic counseling. Neuroimaging provides key information to categorize CH based on the pattern of involvement: unilateral CH, CH with mainly vermis involvement, global CH with involvement of both vermis and hemispheres, and pontocerebellar hypoplasia. The category of CH, associated neuroimaging findings and clinical features may suggest a specific disorder or help plan further investigations and interpret their results. Over the past decade, advances in neuroimaging and genetic testing have greatly improved clinical diagnosis, diagnostic testing, recurrence risk counseling, and information about prognosis for patients and their families. In the next decade, these advances will be translated into deeper understanding of these disorders and more specific treatments.

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Section: Classification Of Cerebellar Hypoplasiamentioning

confidence: 99%

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

Poretti¹,

Boltshauser

Doherty

2014

American J of Med Genetics Pt C

120

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“…Although 47,XYY syndrome was first described in 1961, an increased risk for neurodevelopmental disorders has been documented only recently [ 6 ]. A child with this abnormality may develop mild learning disability, delayed speech and language development, reading difficulties needing remedial help [ 7 , 8 ] and motor difficulties [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

Kolaitis

Bouwkamp

Papakonstantinou

et al. 2016

Child Adolesc Psychiatry Ment Health

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BackgroundThis is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders.Case presentationWe report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed. The cytogenetic analysis revealed 47,XYY syndrome, while CGH analysis revealed an additional duplication and two deletions. The 7q11.23 duplication is associated with speech and language delay and behavioral symptoms, a 20q13.33 deletion is associated with autism and early onset schizophrenia and the 11p15.5 microdeletion is associated with developmental delay, autism, and epilepsy. The patient underwent a psychiatric history, physical examination, laboratory testing, and a detailed cognitive, psychiatric, and occupational therapy evaluation which are reported here in detail.ConclusionsIn the case of psychiatric patients presenting with complex genetic aberrations and additional psychosocial problems, traditional psychiatric and psychological approaches can lead to significantly improved functioning. Genetic diagnostic testing can be highly informative in the diagnostic process and may be applied to patients in psychiatry in case of complex clinical presentations.

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The 47,XYY syndrome, 50 years of certainties and doubts: A systematic review

Birkhoff

2015

Aggression and Violent Behavior

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Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations

Cited by 4 publications

References 10 publications

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

The 47,XYY syndrome, 50 years of certainties and doubts: A systematic review

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