Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly

Chen, Chih‐Ping; Chern, Schu‐Rern; Lee, Chen‐Chi; Chen, Wenlin; Wang, Wayseen

doi:10.1002/1097-0223(200102)21:2<102::aid-pd992>3.0.co;2-5

Cited by 16 publications

(10 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chen et al, (2001) reported intrauterine growth retardation, a widely open mouth and absence of the cranial vault as ultrasonographic findings. Post mortem evaluations revealed anencephaly, hypertelorism, large low-set ears, micrognathia, retroflexed hands and feet without hypoplastic aplastic thumbs and toes (29). We had one case with prenatally detected uSG abnormalities.…”

Section: Resultsmentioning

confidence: 99%

Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

Yakut¹,

Çetin²,

Şi̇mşek³

et al. 2014

TJPATH

View full text Add to dashboard Cite

Objective: The aim of this study was presentation of the ultrasonographic findings and perinatal autopsy of cases with rare chromosomal abnormalities. Material and Method:A total of 10125 prenatal cases over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, and 421 fetal blood sampling cases were evaluated for prenatal cytogenetic diagnosis. Conventional cytogenetic studies, fluorescence in situ hybridization studies, and Array-CGH analysis techniques were used for genetic analysis.Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). rare structural chromosomal abnormalities including de novo balanced translocations, unbalanced translocations, inversions, duplications, deletions, ring chromosomes, and supernumerary marker chromosomes were detected in 24 cases. Conclusion:The rate of rare chromosomal abnormalities varies from 2.4% (South east Ireland) to 12.9% (northern england) in europe with a total rate of 7.4/10 000 births. In our study, the overall rate of chromosomal abnormality in prenatal cytogenetic diagnosis was 3.7%, similar to South east Ireland. ultrasonographic and perinatal autopsy findings of the cases with rare structural chromosomal abnormalities are important for proper genetic counseling for further similar cases.

show abstract

Section: Resultsmentioning

confidence: 99%

Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

Yakut¹,

Çetin²,

Şi̇mşek³

et al. 2014

TJPATH

View full text Add to dashboard Cite

show abstract

“…The congenital absence of the cranial vault with cerebral hemispheres completely missing or decreased to small masses in anencephaly (see Lomholt et al, 2004) may be associated with different genotypic deviations such as ring chromosome 13 and trisomy (Chen et al, 2001;Hahm et al, 1999). Of 16 anencephaly cases, 5 belong to environmental factors such as maternal diabetes, hyperthermia, fetal influenze, fetal aminopterin, and sodium valproate (see Lynch, 2005).…”

Section: Discussionmentioning

confidence: 99%

A Special Case of Anencephaly in an Early-Born Baby with an Exagerated Prognastic Face: Further Example for Human Devolution

Tan¹

2008

International Journal of Neuroscience

View full text Add to dashboard Cite

A 7-month-old baby was born in a village near Iskenderun (Turkey) where "Unertan Syndrome" with quadrupedality and primitive cognitive abilities was discovered. The clinical diagnosis was anencephaly. However, his head did not show the classical symptoms of anencephaly because it was covered with bony structures. The baby has an ape-like, prognasthic head with low-set ears and flapped ear flaps. The other parts of the body were similar to humans with broad shoulders and a short neck. This may be a further example of human devolution, which was first reported by Tan (2005, 2006a,b,c). A genetic defect affecting the head development including brain may be responsible for the reappearance of the ape-like head in a human being. This human devolution, or evolution in reverse, suggests that the same gene or gene-pool as well as the interactions between genes may be responsible for the transition from our ancestors into human beings with regard to an orthognasthic head, and brain development.

show abstract

“…Prenatal diagnosis of r(13) is very rare, and only three cases with prenatally detected r(13) have been reported (Benn et al, 1983;Chen et al, 2001;Schmid et al, 1975). Schmid et al (1975) first reported prenatal diagnosis of r(13) by amniocentesis at 33 weeks of gestation in a pregnancy with fetal anencephaly and multiple internal malformations and facial dysmorphisms.…”

Section: Introductionmentioning

confidence: 99%

“…Ring chromosome 13 [r(13)] in human has been well described in the literature during the past two decades (Bedoyan et al, 2004;Boduroglu et al, 1998;Brandt et al, 1992;Chen et al, 2001;DocoFenzy et al, 1994;Filous et al, 1998;Fryns et al, 1998;Gentile et al, 1999;Guala et al, 1997;Heaven et al, 2000;Hou et al, 1992;Liang et al, 2004;Liao et al, 2011;Morrissette et al, 2001;Ruiz Del Prado et al, 2001;Sankar and Phadke, 2006;Talvik et al, 2000;Venugopalan and Kenue, 2001;Walczak-Sztulpa et al, 2008). However, reported patients with r(13) presented different phenotypic abnormalities according to different breakpoints.…”

Section: Introductionmentioning

confidence: 99%

“…Benn et al (1983) reported prenatal diagnosis of 46,XY,r(13)(p11q13) by amniocentesis at 20 weeks of gestation in a pregnancy with fetal abnormalities of anencephaly, imperforate anus, severe talipes, syndactyly, cardiac defects and other anomalies. Chen et al (2001) reported prenatal diagnosis of 46,XX,r(13)(p11q32) [17]/ 45,XX, in 22 colonies by amniocentesis at 23 weeks of gestation in a pregnancy with fetal anencephaly.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Chen

Tsai

Chern

et al. 2013

Gene

Self Cite

View full text Add to dashboard Cite

Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly

Cited by 16 publications

References 25 publications

Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

A Special Case of Anencephaly in an Early-Born Baby with an Exagerated Prognastic Face: Further Example for Human Devolution

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Contact Info

Product

Resources

About