A New Case of Pure Partial 7q Duplication

Alfonsi, Melissa; Palka, Chiara; Morizio, Elisena; Gatta, Valentina; Franchi, S.; Franchi, Paolo Guanciali; Zori, Robert; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco

doi:10.1159/000334111

Cited by 16 publications

(25 citation statements)

References 40 publications

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“…Group one includes those patients with complete duplication of the long arm, whose clinical features include: hypertelorism, low-set ears, micrognathia, short neck, abnormalities of the genitourinary tract, and early death [ 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

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

Ruiz-Botero

Pachajoa

2016

J Med Case Reports

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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.

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Section: Discussionmentioning

confidence: 99%

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

Ruiz-Botero

Pachajoa

2016

J Med Case Reports

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“…These features include growth retardation, microcephaly, acrocephaly, hand and foot anomalies and dental decay. The partial deletion of 13q[18] and distal duplications of 7q[19] observed in-patient two are both well-known genetic disorders with a very wide spectrum of clinical phenotypes. Some of patient's clinical manifestation such as microcephaly and genital anomaly might be attributed to partial monosomy of 13q and others such as micrognatia to partial trisomy of 7q.…”

Section: Discussionmentioning

confidence: 99%

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization

Behjati¹,

Firouzabadi²,

Kariminejad³

et al. 2013

Indian J Hum Genet

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BACKGROUND:Mental retardation (MR) has a prevalence of 1-3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4-28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15-25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique.MATERIALS AND METHODS:Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test.RESULTS:In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re-evaluation) are removed.CONCLUSION:The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.

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“…Among clinically recognized spontaneous abortions (fetal deaths occurring between 6 and 8 weeks and 20 weeks gestation), the incidence increases to $50% [7]; the most common specific abnormalities are sex-chromosome monosomy (45,X), accounting for nearly 10% of all spontaneous abortions, and trisomies 16, 21, and 22, which together constitute 50% of all trisomies identified in spontaneous abortions. The incidence among stillbirths (fetal 1 Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes Partial duplication 1q: reports of five cases and review of the literature [27] deaths occurring between $20 weeks gestation and term) is $4% with the types of abnormality being similar to those identified in newborns, and $0.3% of live-born are aneuploid with the most common abnormalities being trisomies 21, 18, and 13 and sex-chromosome trisomies 47,XXX, 47,XXY, and 47,XYY [5,8].…”

Section: Incidence Of Aneuploidymentioning

confidence: 99%

Aneuploidy Rates Inversely Correlate with Implantation during In Vitro Fertilization Procedures: In Favor of PGT

Schaeffer¹,

Porchia²,

López-Luna³

et al. 2019

Modern Medical Genetics and Genomics

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Aneuploidy, the hold of an abnormal number of chromosomes that differs from the normal karyotype, is a recognized leading cause of miscarriage and congenital disabilities. In human gametes and embryos, aneuploidy rates are prevalent, and these rates increase with advanced maternal age; additionally, it has been suggested that hormonal stimulation for achieving in vitro fertilization (IVF) protocols further increases aneuploidy rates. Although about 65% of chromosomally abnormal embryos culminate in spontaneous miscarriages, there is still evidence of live births harboring crucial aneuploidies. Furthermore, although some frequent aneuploidies are consistent, others differ between countries, making it harder to focus on a specific set of anomalies but vital to focus regionally on those more prevalent. Preimplantation genetic testing (PGT) is a highly endorsed technique in assisted reproductive treatments to evaluate possible embryo aneuploidies, genetic defects, and congenital disorders. On this subject, this study shows that IVF aneuploidy rates in embryo cohorts of high morphological quality are inversely associated with implantation rates. In its entirety, this study reinforces the utility of PGT for embryo evaluation.

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A New Case of Pure Partial 7q Duplication

Cited by 16 publications

References 40 publications

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

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

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization

Aneuploidy Rates Inversely Correlate with Implantation during In Vitro Fertilization Procedures: In Favor of PGT

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