Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

1991 ◽  
Vol 11 (11) ◽  
pp. 867-873 ◽  
Author(s):  
Siegfried Rotmensch ◽  
Marco Liberati ◽  
Jia-Sen Luo ◽  
Giovanni Tallin ◽  
Maurice J. Mahoney ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome 1 ◽  
Terminal Deletion

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.

Prenatal diagnosis of a largede novo terminal deletion of chromosome 11q

2006 ◽  
Vol 26 (3) ◽  
pp. 286-290 ◽  
Author(s):  
D. Bœhm ◽  
F. Laccone ◽  
P. Burfeind ◽  
S. Herold ◽  
C. Schubert ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Terminal Deletion

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation

Abstract Background: Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation: We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.33-p15.2 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions: Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Jiasun Su ◽  
Huayu Fu ◽  
Bobo Xie ◽  
Weiliang Lu ◽  
Wei Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Snp Array ◽  
Nasal Bone ◽  
Hydrops Fetalis ◽  
Terminal Deletion ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Cri Du Chat Syndrome ◽  
Definitive Method ◽  
Hypoplastic Nasal Bone

Abstract Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China. Case presentation A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order. Conclusion Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

Terminal deletion of chromosome 1 – a recognizable condition

1996 ◽  
Vol 155 (8) ◽  
pp. 720 ◽  
Author(s):  
J. Schefels ◽  
E. Keller-Röttger ◽  
K.-J. Esser
Keyword(s):  
Chromosome 1 ◽  
Terminal Deletion

Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1

2002 ◽  
Vol 22 (9) ◽  
pp. 831-834 ◽  
Author(s):  
I. Witters ◽  
J. R. Vermeesch ◽  
W. Gyselaers ◽  
J. P. Fryns
Keyword(s):  
Chromosome 1 ◽  
Terminal Deletion

scholarly journals Terminal deletion of chromosome 1(q43) in a female infant.

1988 ◽  
Vol 25 (3) ◽  
pp. 211-212 ◽  
Author(s):  
G P Garani ◽  
L Tamisari ◽  
S Volpato ◽  
V Vigi
Keyword(s):  
Female Infant ◽  
Chromosome 1 ◽  
Terminal Deletion

scholarly journals A Prenatally AscertainedDe NovoTerminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Carolina Sismani ◽  
Georgia Christopoulou ◽  
Angelos Alexandrou ◽  
Paola Evangelidou ◽  
Jacqueline Donoghue ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Umbilical Artery ◽  
Congenital Abnormalities ◽  
Chromosome 1 ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Single Umbilical Artery ◽  
Female Fetus ◽  
Pierre Robin ◽  
Chromosomal Bands

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs) and a single umbilical artery (SUA) and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS). Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

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