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Review
. 2020 Jun 3:18:eRC5335.
doi: 10.31744/einstein_journal/2020RC5335. eCollection 2020.

Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder

[Article in English, Portuguese]
Jaime Lin  1   2 , Gigliolle Romancini de Souza-Lin  1   3 , Fernanda Coan Antunes  1 , Letícia Burato Wessler  2 , Emílio Luiz Streck  2 , Cinara Ludvig Gonçalves  2
Affiliations
Review

Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder

[Article in English, Portuguese]
Jaime Lin et al. Einstein (Sao Paulo). .

Abstract
in English, Portuguese

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

RESUMO: Anomalias cromossômicas são responsáveis por inúmeras malformações congênitas no mundo, algumas delas associadas a deleções teloméricas/subteloméricas. As anomalias que envolvem o telômero do cromossomo 12 são raras, com poucos relatos na literatura sobre deleções relacionados à região 12q24.31 e, até onde sabemos, apenas quatro deles na região 12q24.31-q24.33. Relatamos um outro caso de deleção intersticial das bandas 12q24.31-q24.33 associada ao transtorno do espectro do autismo. Trata-se de um menino de 2 anos de idade com atraso global no desenvolvimento associado a múltiplas anomalias congênitas. A utilização do Human Genome CGH Microarray 60K confirmou o diagnóstico da síndrome de deleção 12q. Este estudo fez uma revisão da literatura atual, comparando nosso paciente com casos previamente relatados. Estas análises detalhadas contribuem para o desenvolvimento de correlações genótipo/fenótipo para deleções 12q, que ajudam aos melhores diagnóstico e prognóstico desta deleção.

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Figures

Figure 1
Figure 1. Multiple congenital anomalies. (A) Slight coarsening of facial appearance, a short nose with anteverted nares and smooth philtrum. The ears were normally set and normal in size and configuration; (B) Fifth finger clinodactyly on hand; (C) Polydactyly on the left foot
Figure 2
Figure 2. Magnetic resonance imaging T2-weighted sagital image. (A) Aqueductal web (arrow) with supratentorial hydrocephalus and ballooning of the chiasmatic recess. The corpus callosum was thin. Magnetic resonance imaging T2-weighted coronal image. (B) Axial image. (C) Dilatation of the lateral ventricles and of the third ventricle, septum pellucidum absence (arrow in C) and cerebral hypomyelination
Figura 1
Figura 1. Anomalias congênitas múltiplas. (A) Ligeiro embrutecimento das feições faciais, nariz curto com narinas antevertidas e filtro liso. As orelhas tinham implantação, tamanho e configuração normais; (B) Clinodactilia do quinto dedo da mão; (C) Polidactilia no pé esquerdo
Figura 2
Figura 2. Imagem sagital ponderada em T2 da ressonância magnética. (A) Tela aqueductal (seta) com hidrocefalia supratentorial e balonamento do recesso quiasmático. O corpo caloso é delgado. Imagem coronal ponderada em T2 da ressonância magnética. (B) Imagem axial. (C) Dilatação dos ventrículos laterais e do terceiro ventrículo, ausência do septo pelúcido (seta em C) e hipomielinização cerebral
See this image and copyright information in PMC

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