Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

2009 ◽  
Vol 149A (4) ◽  
pp. 793-797 ◽  
Author(s):  
Meena Balasubramanian ◽  
John C.K. Barber ◽  
Morag N. Collinson ◽  
Shuwen Huang ◽  
Viv K. Maloney ◽  
...  
Keyword(s):  
Array Cgh ◽  
Partial Trisomy ◽  
Inverted Duplication

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

2017 ◽  
Vol 153 (3) ◽  
pp. 117-124 ◽  
Author(s):  
Lyvia Marlet ◽  
Eudeline Alix ◽  
Marianne Till ◽  
Fabienne Raskin-Champion ◽  
Jocelyne Attia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Unusual Case ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Chromosome 2 ◽  
Telomeric Sequences ◽  
Inverted Duplication ◽  
Interstitial Telomeric Sequences ◽  
Heart Malformation

We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only 4 further cases of pure partial trisomy 2p reported prenatally. Here, the mother was referred at 22 weeks of gestation for isolated fetal congenital heart malformation at ultrasound. The karyotype of amniotic fluid cells displayed a large duplication of the short arm of chromosome 2 that was further investigated by array-CGH, which detected a 1-copy gain of 43.75 Mb in chromosome 2 at 2p21p25.3. FISH confirmed the presence of an inverted duplication in the short arm of chromosome 2 involving the region 2p21pter and revealed the presence of ITSs at the breakpoint in chromosome 2p21. This report contributes to the prenatal description of the syndrome. We also discuss the possible mechanisms leading to this duplication and the formation of ITSs which are rarely described in constitutional rearrangements.

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Divya Bose ◽  
Venkatesh Krishnamurthy ◽  
K.S. Venkatesh ◽  
Mohamed Aiyaz ◽  
Mitesh Shetty ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Oligonucleotide Array ◽  
Global Developmental Delay ◽  
Potential Candidate ◽  
Balanced Translocation ◽  
Dysmorphic Features ◽  
Novel Association

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: An array CGH analysis and review

2013 ◽  
Vol 164 (2) ◽  
pp. 490-494 ◽  
Author(s):  
Ibrahim Akalin ◽  
Senol Bozdag ◽  
Malte Spielmann ◽  
Sarenur Yilmaz Basaran ◽  
Indrajit Nanda ◽  
...  
Keyword(s):  
Newborn Infant ◽  
Array Cgh ◽  
Partial Trisomy

Case Report: Partial trisomy of 15q due to inserted inverted duplication

2008 ◽  
Vol 52 (6) ◽  
pp. 442-445 ◽  
Author(s):  
Nursel Elçioglu ◽  
Claudine Fear ◽  
A. Caroline Berry
Keyword(s):  
Case Report ◽  
Partial Trisomy ◽  
Inverted Duplication

scholarly journals Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

2008 ◽  
Vol 17 (4) ◽  
pp. 454-466 ◽  
Author(s):  
Robert Lyle ◽  
Frédérique Béna ◽  
Sarantis Gagos ◽  
Corinne Gehrig ◽  
Gipsy Lopez ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Partial Monosomy

scholarly journals A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1957
Author(s):  
Roxana Popescu ◽  
Mihaela Grămescu ◽  
Lavinia Caba ◽  
Monica-Cristina Pânzaru ◽  
Lăcrămioara Butnariu ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Array Cgh ◽  
Neonatal Period ◽  
Chromosomal Translocation ◽  
Partial Trisomy ◽  
Chromosomal Anomalies ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Bulbous Tip ◽  
Short Philtrum

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.

Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8

2008 ◽  
Vol 146A (21) ◽  
pp. 2837-2841 ◽  
Author(s):  
Isabel Filges ◽  
Benno Röthlisberger ◽  
Friedel Wenzel ◽  
Karl Heinimann ◽  
Andreas R. Huber ◽  
...  
Keyword(s):  
Array Cgh ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 8 ◽  
Trisomy 8

Prenatal findings and delineation ofde novoconcurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH

2009 ◽  
Vol 22 (11) ◽  
pp. 1014-1020 ◽  
Author(s):  
Kwong Wai Choy ◽  
Lin Wai Chan ◽  
Mary H. Y. Tang ◽  
Lucy K. L. Ng ◽  
Tak Yeung Leung ◽  
...  
Keyword(s):  
High Resolution ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Partial Monosomy
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