Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH

Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes. sSMCs are categorized as hereditary or de novo. Here, we describe a case of prenatal de novo 4q11q12 sSMC and its molecular cytogenetic features which had no apparent phenotypic abnormality. Case: The fetus of a 36-yr-old pregnant woman was detected positive for Down’s syndrome (trisomy 21) at the 16th wk of gestation. Quantitative fluorescent polymerase chain reaction technique was applied for the rapid detection of numerical aneuploidy of chromosomes X, Y, 13, 18, and 21 microsatellites. Array comparative genomic hybridization (array CGH) technique was also conducted following the karyotype analysis of amniotic cells. The karyotype analysis was also done for the parents. Quantitative fluorescent polymerase chain reaction result revealed a male fetus with a normal chromosomal pattern, while the amniocentesis karyotype analysis identified a male fetus with a marker chromosome (47, XY, +mar), and the sSMC were existing in 100% of amniocyte metaphase spreads. The parents’ normal karyotypes indicated that the sSMC was de novo. Array CGH analysis revealed a 6.48-Mb duplication at 4q11q12. Eventually, the parents decided to terminate the pregnancy by legal abortion. Conclusion: Our study highlights the importance of the application of array CGH in combination with karyotype analysis for rapid and precise prenatal diagnosis of partial aneuploidy region. Key words: Prenatal diagnosis, Array CGH, Chromosome 4, Chromosome markers.

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Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis

Medicine ◽

10.1097/md.0000000000015027 ◽

2019 ◽

Vol 98 (14) ◽

pp. e15027 ◽

Cited By ~ 1

Author(s):

Hong Qi ◽

Jianjiang Zhu ◽

Shaoqin Zhang ◽

Lirong Cai ◽

Xiaohui Wen ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Microarray Analysis ◽

De Novo ◽

Deletion Syndrome ◽

Chromosome Microarray Analysis ◽

Chromosome Microarray

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Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

Case Reports in Obstetrics and Gynecology ◽

10.1155/2013/248050 ◽

2013 ◽

Vol 2013 ◽

pp. 1-5

Author(s):

Halit Akbas ◽

Naci Cine ◽

Mahmut Erdemoglu ◽

Ahmet Engin Atay ◽

Selda Simsek ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Critical Region ◽

Array Cgh ◽

De Novo ◽

Ring Chromosome ◽

Maternal Serum ◽

Chromosome 4 ◽

Maternal Serum Screening ◽

Ring Chromosomes ◽

Subtelomeric Deletion

Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

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Erratum: Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Prenatal Diagnosis ◽

10.1002/pd.2558 ◽

2010 ◽

Vol 30 (6) ◽

pp. 594-594

Author(s):

Sofia Kitsiou-Tzeli ◽

Carolina Sismani ◽

Margarita Karkaletsi ◽

Lina Florentin ◽

Anastassios Anastassiou ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Array Cgh ◽

De Novo ◽

Partial Trisomy ◽

Unbalanced Translocation

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Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

Molecular Cytogenetics ◽

10.1186/1755-8166-6-47 ◽

2013 ◽

Vol 6 (1) ◽

pp. 47 ◽

Cited By ~ 5

Author(s):

Emmanouil Manolakos ◽

Konstantinos Kefalas ◽

Annalisa Vetro ◽

Eirini Oikonomidou ◽

George Daskalakis ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Array Cgh ◽

De Novo

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A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Molecular Cytogenetics ◽

10.1186/s13039-019-0464-y ◽

2019 ◽

Vol 12 (1) ◽

Cited By ~ 2

Author(s):

Ganye Zhao ◽

Peng Dai ◽

Shanshan Gao ◽

Xuechao Zhao ◽

Conghui Wang ◽

...

Keyword(s):

Prenatal Diagnosis ◽

De Novo ◽

Prenatal Testing ◽

Nuchal Translucency ◽

Deletion Syndrome ◽

Chromosome 18 ◽

Partial Monosomy ◽

Noninvasive Prenatal Testing ◽

First Case ◽

Case Presentations

Abstract Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, the segmental deletions and duplications should also be concerned. Except that some cases had increased nuchal translucency or holoprosencephaly, most of the fetal phenotype of 18p deletion syndrome may not be evident during the pregnancy, 18p deletion syndrome was always accidentally discovered during the prenatal examination. Case presentations In our case, we found a pure partial monosomy 18p deletion during the confirmation of the result of NIPT by copy number variation sequencing (CNV-Seq). The result of NIPT suggested that there was a partial or complete deletion of X chromosome. The amniotic fluid karyotype was normal, but result of CNV-Seq indicated a 7.56 Mb deletion on the short arm of chromosome 18 but not in the couple, which means the deletion was de novo deletion. Finally, the parents chose to terminate the pregnancy. Conclusions To our knowledge, this is the first case of prenatal diagnosis of 18p deletion syndrome following NIPT.NIPT combined with ultrasound may be a relatively efficient method to screen chromosome microdeletions especially for the 18p deletion syndrome.

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Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature

Cytogenetic and Genome Research ◽

10.1159/000500735 ◽

2019 ◽

Vol 158 (2) ◽

pp. 63-73 ◽

Cited By ~ 1

Author(s):

Zsolt Tidrenczel ◽

Erika P. Tardy ◽

Henriett Pikó ◽

Edina Sarkadi ◽

Ildikó Böjtös ◽

...

Keyword(s):

Prenatal Diagnosis ◽

De Novo ◽

Phenotypic Variability ◽

Chromosome Analysis ◽

Index Patient ◽

Maternal Serum ◽

Prenatal Ultrasound ◽

Terminal Deletion ◽

Deletion Syndrome ◽

Comparative Genome Hybridization

Terminal deletion of chromosome 4 (4q deletion syndrome) is a rare genetic condition that is characterized by a broad clinical spectrum and phenotypic variability. Diagnosis of the distinct condition can be identified by conventional chromosome analysis and small deletions by novel molecular cytogenetic methods such as microarray comparative genome hybridization (aCGH). Prenatal diagnosis is challenging; to date 10 cases have been described. We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 prenatally published cases of 4q deletion syndrome in the literature and compared these with our results. We summarize the patients' characteristics and prenatal clinical findings. Alterations of maternal serum biochemical factors, an elevated combined risk for trisomies, and distinct ultrasonographic findings can often be observed in cases of prenatal 4q deletion syndrome and may facilitate the otherwise difficult prenatal diagnosis.

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