Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Abstract

BackgroundGenetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %.Case presentationWe report the first case of an 8-year-old Colombian girl of mixed race ancestry (Mestizo), with clinical features that include: delayed psychomotor and language development, intellectual disability, upward slanting palpebral fissures, divergent strabismus, low-set and rotated ears, tall and broad nasal bridge, flat philtrum, bifid uvula, posterior cleft palate, increased anteroposterior diameter of her chest, congenital heart defect type interventricular communication, scoliosis, and umbilical hernia. Genetic analysis was performed using comparative genomic hybridization array, which evidenced the deletion of a region of approximately 3.608 Mb on chromosome 21q22.3, and a duplication of 12.326 Mb on chromosome 7q35q36.3, these alterations affect approximately 112 and 186 genes, respectively.ConclusionsTo date, this is the first report of an associated terminal deletion of 21q and 7q duplication in a patient with delayed psychomotor development and intellectual disability. We consider that future implementation of exome and RNA sequencing techniques, and analysis of their proteomic expression in a clinical context could lead to better analysis and interpretation of the genotype–phenotype correlation in cases similar to that described.

Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review

“…Ciocca et al [20] reported a syndromic female newborn of 21q22.3 deletion with severe stenosis of the aortic valve and ascending aorta, mitral valve atresia, and hypoplastic left ventricle, who died of cardiopulmonary insufficiency after birth. A Colombian girl with 21q22.3 deletion and 7q35q36.3 duplication manifested an atrial septal defect, dilated coronary sinus, and interventricular communication [21]. The deleted location and size of 21q22.3 were similar with our case who had no cardiac anomaly.…”

“…Two (2/4) cases had downslanted palpebral fissures. Two (2/4) patients presented with upslanted palpebral fissures, which is similar to trisomy 21 syndrome [21,22]. One patient had small palpebral fissures [20].…”

“…One patient with incomplete clinical data was not included in the table [16]. Seven patients with 21q22.3 deletion and our proband are shown in Table 2 [17][18][19][20][21][22]. We excluded 2 fetuses who were terminated before pregnancy [23,24].…”

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

“…Other less common chromosomal abnormalities reported co-occurring with an omphalocele include triploidy, 45, XO, 47, XXY, and 47, XXX [ 4 ]. A wide range of partial aneuploidy, including dup (3q), dup (11p) [ 10 ], inv (11), dup (1q), del (1q), dup (4q), dup (5p), dup (6q), del (9p), dup (15q) [ 11 ], dup (17q), dup (7q)/del (21q) [ 12 ], dup (3q)/del (9q) [ 13 ], Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD) such as UPD11 and UPD14, is also reported to be associated with omphalocele [ 4 , 10 , 11 , 14 , 15 ].…”

Investigação Citogenômica de Crianças com Doença Cardíaca Congênita: Experiência de um Centro no Brasil

“…Duplicações parciais 7q foram classificadas em quatro grupos de acordo com a região cromossômica afetada. 43 Para o paciente detectado com a duplicação 8p24, haverá um acompanhamento neurológico para monitorar o desenvolvimento clínico, já que os genes associados à epilepsia estão localizados na região 8p24, e alterações nesta região podem ser responsáveis por convulsões tônicas, às vezes seguidas de convulsões clônicas generalizadas. Um dos genes envolvidos é o KCNQ3 (canais de potássio dependentes de voltagem, subfamília Q, membro 3).…”