Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior

Martínez-Jacobo, Lizeth; Ortı́z-López, Rocio; Rizo-Méndez, Alfredo; García-Molina, Viridiana; Santuario‐Facio, Sandra K.; Rivas, Fernando; Rojas-Martı́nez, Augusto

doi:10.1016/j.gene.2015.02.010

Cited by 9 publications

(14 citation statements)

References 31 publications

(35 reference statements)

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“…A case report implicated a marker derived from regions spanning 9p24.3q21.11 in a patient with psychotic symptoms, further highlighting the association of a marker chromosome with a neuropsychiatric presentation (Martínez-Jacobo et al, 2015). …”

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confidence: 99%

“…Consistent with this expectation, mice transgenically modified to overexpress GLDC have significantly reduced extracellular brain glycine levels (Oda et al, 2007). The GLDC gene is also located within a potential locus for autism susceptibility (Abu-Amero et al, 2010), has been found to be fully duplicated in patient with schizophrenia and idiopathic epilepsy (Stewart, Hall, Kang, Shaw & Beaudet, 2011), and has been previously reported as duplicated on a marker chromosome in a patient with psychotic symptoms (Martinez-Jacobo et al 2015), although the exact biological relevance of dosage changes in this gene remains unknown. Therefore, we postulate that the differing levels of mosaicism in the mother and proband may also contribute to the different clinical severities of their illnesses.…”

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confidence: 99%

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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Grochowski

Yuan

et al. 2018

Human Mutation

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Small supernumerary marker chromosomes (sSMC) are chromosomal fragments difficult to characterize genomically. Here, we detail a proband with schizoaffective disorder and a mother with bipolar disorder with psychotic features who present with a marker chromosome that segregates with disease. We explored the architecture of this marker and investigated its temporal origin. Array comparative genomic hybridization (aCGH) analysis revealed three duplications and three triplications that spanned the short arm of chromosome 9, suggestive of a chromoanasynthesis-like event. Segregation of marker genotypes, phased using sSMC mosaicism in the mother, provided evidence that it was generated during a germline-level event in the proband's maternal grandmother. Whole-genome sequencing (WGS) was performed to resolve the structure and junctions of the chromosomal fragments, revealing further complexities. While structural variations have been previously associated with neuropsychiatric disorders and marker chromosomes, here we detail the precise architecture, human life-cycle genesis, and propose a DNA replicative/repair mechanism underlying formation.

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confidence: 99%

mentioning

confidence: 99%

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Grochowski

Yuan

et al. 2018

Human Mutation

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“…A 3-year-old boy with de novo 9p24.2 to 9p23 was diagnosed with development lag and craniofacial anomalies [36]. Some studies reported that the partial duplication of 9p24.3p23 was related to microcephaly, autism, and other clinical phenotype-related diseases [4,15,37]. In the present study, the fetus with 9p24.3p23 contained 32 OMIM pathological genes, including GLIS3 and SMARCA2.…”

Section: Discussionmentioning

confidence: 49%

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Sha

Zhai

et al. 2020

Mol Cytogenet

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Objective: This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods: The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes. Results: The fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father's was normal at the level of 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful. Conclusions: The SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.

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“…Főbb klinikai vonatkozások [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] Az első 9p triszómiás eseteket Rethoré és mtsai írták le 1970-ben; azóta sok irodalmi adat gyűlt össze, ezáltal a 9p duplikáció mélyen feltárt klinikai szindrómává vált. A 9p duplikáció lehet teljes vagy részleges attól függően, hogy az egész 9-es rövid kart vagy annak csupán egy részét érinti.…”

Section: Megbeszélésunclassified

“…A 9p duplikációk esetében más neuropszichiátriai zavarokat (pszichotikus zavarok, ADHD, epilepszia) is leírtak [17]. Ezeket, valamint a velük összefüggésbe hozható géneket az 2. táblázatban foglaltuk össze.…”

Section: Genotípus-fenotípus öSszefüggésekunclassified

9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése

et al. 2018

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Whole or partial trisomy of the short arm of chromosome 9 (9p) is considered to be one of the more frequent chromosome abnormalities compatible with life. The duplication may affect various organs, however the most common symptoms are certain specific facial dysmorphisms and abnormalities of the fingers, toes and nails. A one month old boy presented with failure to thrive, jaundice, ventricular septal defect (VSD) and dysmorphic face. He displayed symptoms of heart failure. The cardiologic examination revealed a significant VSD, hypoplasia of the aortic arch, pulmonary hypertension, decompensated circulatory failure and moderate left ventricle dysfunction. Routine cytogenetic analysis revealed a supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) identified this as the short arm of chromosome 9. The child’s karyotype was determined as 47,XY,+der(9)dup(9)(p10p24)dn. Due to his worsening condition and the high risk of the operation, it was decided to forego the procedure. After a short palliative care the child passed away. The child’s clinical presentation and the uncharacteristic severity of his condition show that chromosome abnormalities involving duplicated genetic material are extremely heterogeneous. Thus treatment of each child should be individualized and may also involve difficult ethical considerations. Orv Hetil. 2018; 159(47): 1994–2000.

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Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior

Cited by 9 publications

References 31 publications

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése

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