Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry

Chen, Chih‐Ping; Su, Yi‐Ning; Lin, Shuan‐Pei; Chern, Schu‐Rern; Su, Jun-Wei; Chen, Yuting; Lee, Meng-Shan; Wang, Wayseen

doi:10.1016/j.tjog.2012.08.002

Cited by 13 publications

(13 citation statements)

References 18 publications

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“…In the present study, a total of 96 pathogenic CNVs were detected in CMA results of 75 patients with ND in the state of Santa Catarina, a diagnostic yield of 18%, within the range of 15–20% diagnostic rate cited in literature for patients with ND in other cohorts 5,9,11–17 . It is important to highlight that the 75 patients with pathogenic CNVs, included 12 patients of the 17 with previous abnormal karyotype result, for whom the CMA test was requested in order to identify the DNA sequences involved.…”

Section: Discussionsupporting

confidence: 66%

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

Chaves

Baretto

Oliveira

et al. 2019

Sci Rep

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Chromosomal microarray (CMA) is now recommended as first tier for the evaluation in individuals with unexplained neurodevelopmental disorders (ND). However, in developing countries such as Brazil, classical cytogenetic tests are still the most used in clinical practice, as reflected by the scarcity of publications of microarray investigation in larger cohorts. This is a retrospective study which analyses the reading files of CMA and available clinical data from 420 patients from the south of Brazil, mostly children, with neurodevelopmental disorders requested by medical geneticists and neurologists for diagnostic purpose. Previous karyotyping was reported for 138 and includes 17 with abnormal results. The platforms used for CMA were CYTOSCAN 750K (75%) and CYTOSCAN HD (25%). The sex ratio of the patients was 1.625 males :1 female and the mean age was 9.5 years. A total of 96 pathogenic copy number variations (CNVs), 58 deletions and 38 duplications, were found in 18% of the patients and in all chromosomes, except chromosome 11. For 12% of the patients only variants of uncertain clinical significance were found. No clinically relevant CNV was found in 70%. The main referrals for chromosomal microarrays (CMA) were developmental delay (DD), intellectual disability (ID), facial dysmorphism and autism spectrum disorder (ASD). DD/ID were present in 80%, facial dysmorphism in 52% and ASD in 32%. Some phenotypes in this population could be predictive of a higher probability to carry a pathogenic CNV, as follows: dysmorphic facial features (p-value = < 0.0001, OR = 0.32), obesity (p-value = 0.006, OR = 0.20), short stature (p-value = 0.032, OR = 0.44), genitourinary anomalies (p-value = 0.032, OR = 0.63) and ASD (p-value = 0.039, OR = 1.94). The diagnostic rate for CMA in this study was 18%. We present the largest report of CMA data in a cohort with ND in Brazil. We characterize the rare CNVs found together with the main phenotypes presented by each patient, list phenotypes which could predict a higher diagnostic probability by CMA in patients with a neurodevelopmental disorder and show how CMA and classical karyotyping results are complementary.

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Section: Discussionsupporting

confidence: 66%

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

Chaves

Baretto

Oliveira

et al. 2019

Sci Rep

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“…The majority of case reports and series of patients with partial trisomy 14 describe postnatal findings, leaving a considerable gap in the understanding of prenatal diagnosis, and management as it relates to our patient. To date, there are only a few reports on prenatal diagnosis of partial trisomy 14q [Duckett et al, ; Chen et al, , ], many of which were terminated. While complete trisomy of chromosome 14 is lethal, pediatric cases of partial and mosaic trisomy 14 have been reported [Lynch et al, ; Shinawi et al, ; Thiel et al, ; Brunetti‐Pierri et al, ; Guilherme et al, ; Qi et al, ; Bose et al, ; Kurtulgan et al, ].…”

Section: Discussionmentioning

confidence: 99%

“…Partial trisomy of the long arm of chromosome 14 is a rare chromosomal abnormality with an extremely variable phenotype ranging from mild to severe degrees of malformations [Duckett et al, ; Sliuzas et al, ; Thiel et al, ; Chen et al, , ; Brunetti‐Pierri et al, ; Dutta et al, ; Guilherme et al, ; Qi et al, ; Sgardioli et al, ; Bose et al, ; Kurtulgan et al, ], while complete non‐mosaic trisomy 14 is a lethal condition. Moreover, chromosome 14 contains a number of imprinted genes, expressed from either a maternal, or paternal homolog.…”

Section: Introductionmentioning

confidence: 99%

Genotype–phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

Bregand-White

Saller

Clemens

et al. 2016

American J of Med Genetics Pt A

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Over the last decade, several advances in ultrasound techniques, increasing availability of whole genome microarray testing, and overall expansion of our knowledge about the human genome have drastically enhanced our ability to detect chromosomal abnormalities prenatally. Despite that, genotype-phenotype correlation is difficult to establish for many chromosomal aberrations, particularly for those that are rare, as it requires thorough analysis of a significant number of cases. This in turn increases the burden of the obstetric provider to appropriately counsel a patient regarding prognosis and pregnancy options in these complicated situations. Our experience in prenatal diagnosis and management of a fetus with multiple anomalies and partial trisomy for the 14q11-q24.2 prompted a comprehensive analysis of the relevant literature. Although complete non-mosaic trisomy 14 is associated with first trimester miscarriages, partial trisomy 14q is a rare condition with undefined genotype-phenotype correlation, preventing accurate prenatal counseling, and informed decision making. We performed a systematic literature review, that aimed to summarize prenatal and postnatal findings of individual case reports on 51 patients with partial trisomy 14q in order to elucidate genotype-phenotype correlation, and to supply healthcare professionals with recommendation on essential fetal and parental testing for accurate diagnosis, pregnancy outcomes, and proper family counseling. Comparison of the clinical findings among the patients with partial 14q trisomy suggest that the resulting phenotype is likely to be influenced by the extent of the 14q trisomy segment, associated chromosomal imbalances, parental origin of the rearrangement, and dosage of the genes within the imprinted 14q32 cluster. © 2016 Wiley Periodicals, Inc.

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“…However, there is phenotypic diversity in females with dup(X) because of functional disomy restricted to the duplicated material on X chromosome (Armstrong et al, 2003), tissue-dependent difference in the X-inactivation pattern between the lymphocytes and other tissues (Volleth et al, 2001), inter-individual difference in the X-inactivation pattern (Morichon-Delvallez et al, 1988), and incomplete inactivation of the dup(X) segment, expression of recessive mutant genes on the active X chromosome, or gene disruption by chromosome rearrangement (Aughton et al, 1993;Sanlaville et al, 2009;Van Dyke et al, 1983). With the advent of aCGH, an interstitial segmental duplication can be easily identified (Chen et al, 2011(Chen et al, , 2013a(Chen et al, , 2013b. This study confirms the power of array CGH in the clinical investigation of the genetic pathogenesis of concomitant primary amenorrhea and mental retardation.…”

Section: Discussionmentioning

confidence: 99%

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardation

Chen

Lin

Chern

et al. 2014

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry

Abstract: Abnormal maternal serum biochemistry in the second trimester may be a distinctive prenatal feature in pregnancy associated with fetal chromosome 14q duplication.

Cited by 13 publications

References 18 publications

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

Genotype–phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardation

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