Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia

Jung, Sang Hee; Shim, Sung Han; Park, Sang Hee; Park, Ji Eun; Park, Hea Ree; Ahn, Eun Hee; Kim, Soo Hyun; Hyun, Dong

doi:10.1016/j.gene.2012.01.070

Cited by 10 publications

(6 citation statements)

References 25 publications

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“…Although, as outlined by Abreu‐González et al , the clinical manifestation appears to be dominated by the dup(3q) phenotype, these authors reviewed the findings from patients with pure dup(3q) only. Together with the data from our study, there are now at least 31 patients (25 unrelated cases) with a pure dup(3q) reported in the literature ( , , , this study). As correctly countered by Meins et al , a patient reported by Rosenfeld et al showed trisomy 3q21‐q26 but also monosomy for 3q27‐q29 and had to be excluded.…”

Section: Phenotypic Features Of Patients With ‘Pure’ Duplication 3qsupporting

confidence: 77%

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

et al. 2016

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Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32-q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3-q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32.

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Section: Phenotypic Features Of Patients With ‘Pure’ Duplication 3qsupporting

confidence: 77%

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

et al. 2016

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“…The referred case involved a more proximal chromosome break point on chromosome 3 and apparently had clinical data similar to the described for a dup(3q) syndrome. It is remarkable that there are other reports of pure dup(3q) syndrome involving a rearrangement with the short arm of an acrocentric chromosome [7, 17, 18]. The family described, as in the case reported by Falek et al [17], involves an extended family with various balanced carriers and affected individuals.…”

Section: Discussionmentioning

confidence: 97%

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

Abreu-González

García-Delgado

Cervantes

et al. 2013

Case Reports in Genetics

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Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

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“…They are often associated with other intra‐ and extracranial pathology. They can also accompany genetic defects and syndromes, and are linked to various clinical outcomes, ranging from normal to neurodevelopmental issues affecting multiple domains: motor, communication, cognition, emotional regulation, and executive function 8,9 . Therefore, prenatal counselling for CVD is still challenging.…”

Section: Introductionmentioning

confidence: 99%

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

et al. 2020

Prenatal Diagnosis

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Objective To assess the value of chromosome microarray analysis (CMA) and whole exome sequencing (WES) in fetuses with cerebellar vermis defects (CVD). Methods From 2013 to 2019, we performed CMA on 43 fetuses with CVD, who were divided into cerebellar vermis hypoplasia (CVH) group and Dandy‐Walker malformation (DWM) group according to morphological subtypes. Subsequently, WES was performed on 19 fetuses with normal CMA results to identify diagnostic genetic variants (DGVs). Results Chromosome aneuploidies and clinically significant copy number variants were identified in 23.3% (10/43) of fetuses, and a significantly higher positive rate was found in fetuses with multiple compared with isolated malformations (36% vs 5.6%, P = .028). STAG2 genes related to Xq25 duplication syndrome was possibly a novel candidate gene for CVD. WES detected eight DGVs in seven genes among the 19 fetuses tested. Autosomal recessive ciliopathies (4/8) caused by TMEM231, CSPP1, and CEP290 mutations, were the most frequent monogenetic diseases, followed by Opitz GBBB syndrome (2/8) caused by MID1 and SPECC1L variants. Conclusion The combined use of CMA and WES has the potential to provide genetic diagnoses in 42% (18/43) of fetal CVD. WES should be offered when CMA results are normal.

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Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia

Cited by 10 publications

References 25 publications

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

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