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 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.

Prenatal diagnosis of terminal deletion 1 (q42)

1992 ◽  
Vol 12 (10) ◽  
pp. 853-853 ◽  
Author(s):  
Bruno Dallapiccola ◽  
Giovanna Ferranti ◽  
Antonio Pachì
Keyword(s):  
Prenatal Diagnosis ◽  
Terminal Deletion

scholarly journals Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

2020 ◽  
Vol 8 (8) ◽  
pp. 1461-1466 ◽  
Author(s):  
Evy Vervecken ◽  
Bettina Blaumeiser ◽  
Tina Vanderheyden ◽  
Jan Hauspy ◽  
Katrien Janssens
Keyword(s):  
Prenatal Diagnosis ◽  
Added Value ◽  
Terminal Deletion ◽  
Chromosome 13

Prenatal diagnosis of mosaicism for 11q terminal deletion

2007 ◽  
Vol 50 (6) ◽  
pp. 475-481 ◽  
Author(s):  
M. Valduga ◽  
V. Latger Cannard ◽  
C. Philippe ◽  
S. Romana ◽  
A. Miton ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Terminal Deletion

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

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

2019 ◽  
Vol 158 (2) ◽  
pp. 63-73 ◽  
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.

Prenatal diagnosis ofde novo terminal deletion of chromosome 7q

2003 ◽  
Vol 23 (5) ◽  
pp. 375-379 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chin-Yuan Tzen ◽  
Chen-Chi Lee ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Terminal Deletion ◽  
Chromosome 7Q

Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly

2008 ◽  
Vol 50 (5) ◽  
pp. 321-326 ◽  
Author(s):  
Chih-Ping Chen ◽  
Fen-Fen Liu ◽  
Sheau-Wen Jan ◽  
Chen-Li Lin ◽  
Chung-Chi Lan
Keyword(s):  
Prenatal Diagnosis ◽  
Partial Trisomy ◽  
Terminal Deletion ◽  
Trisomy 3P
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