EP05.04: Prenatal diagnosis of a 7,6MB 2q14.3q22.1 deletion detected by SNP array in a fetus with isolated bilateral club foot: a case report

2019 ◽  
Vol 54 (S1) ◽  
pp. 258-258
Author(s):  
D. Eroğlu ◽  
K. Yararbas ◽  
E. Bastu
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Club Foot ◽  
Snp Array

Prenatal diagnosis of an epignathus associated with a 49, XXXXY karyotype – a case report

2007 ◽  
Vol 28 (S 1) ◽  
Author(s):  
I Staboulidou ◽  
K Miller ◽  
G Göhring ◽  
P Hillemanns ◽  
M Wüstemann
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis

Mature teratoma splitting the brainstem in a newborn: case report

2019 ◽  
Vol 24 (4) ◽  
pp. 371-375
Author(s):  
Li-tal Pratt ◽  
Shelly I. Shiran ◽  
Ronit Precel ◽  
Liat Ben-Sira ◽  
Gustavo Malinger ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Posterior Fossa ◽  
Mature Teratoma

Mature teratomas (MTs) of the posterior fossa are extremely rare. The authors present a case of a prenatal diagnosis of an MT splitting the brainstem. Representative images as well as the clinical and surgical course are presented. Literature regarding “split brainstem” and MT of the posterior fossa is discussed.

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Vincenzo Altieri ◽  
Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Molecular Characterization ◽  
Marker Chromosome

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

P09.07: Prenatal diagnosis of Klippel Trenaunay syndrome: a case report

2010 ◽  
Vol 36 (S1) ◽  
pp. 202-202
Author(s):  
M. Brain Giannotti ◽  
O. Gomez ◽  
N. Masoller ◽  
J. Martinez ◽  
B. Puerto ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Klippel Trenaunay Syndrome

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

scholarly journals A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Dan Li ◽  
Yun Wang ◽  
Nan Zhao ◽  
Liang Chang ◽  
Ping Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Karyotype Analysis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Comparative Genomic ◽  
Klinefelter’S Syndrome ◽  
Mechanism Analysis ◽  
Klinefelter's Syndrome ◽  
Preimplantation Genetic Testing ◽  
First Case

Abstract Background Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. Case presentation Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), has obtained 5 embryos by intracytoplasmic sperm injection (ICSI) after one cycle of in vitro fertility (IVF). After microarray-based comparative genomic hybridization (array-CGH) for preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR), two embryos were balanced, one balanced embryo was implanted and the patient successfully achieved pregnancy. Amniocentesis was performed at the 19th week of gestation for karyotype analysis and single nucleotide polymorphism (SNP)-array test. The result of karyotype analysis was: mos 47, XXY [19]/46, XY [81]; SNP-array results revealed 46, XY, iUPD (9) pat. After full genetic counseling for mosaic Klinefelter’s syndrome and paternal iUPD (9), the couple decided to continue pregnancy, and the patient gave birth to a healthy boy. The newborn is now 3.5 years old, and developed normally. This case will provide counseling evidences of paternal iUPD (9) for doctors. Conclusions This is the first case report of paternal iUPD9 with mosaic Klinefelter’s syndrome, and no abnormality has been observed during the 3.5-year follow-up. Further observation is required to determine whether the imprinted genes on the chromosomes are pathogenic and whether recessive pathogenetic genes are activated.

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