scholarly journals A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH

2018 ◽  
Vol 6 (7) ◽  
pp. 1313-1316
Author(s):  
Shama L. Bhola ◽  
Aggie W. M. Nieuwint ◽  
Kyra E. Stuurman
Keyword(s):  
Trisomy 21 ◽  
Array Cgh ◽  
Partial Trisomy

scholarly journals Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Cicchini ◽  
Michael B. Petersen ◽  
Lisbeth Tranebjærg ◽  
Teresa Mattina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Critical Region ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Human Chromosome 21

Transient myeloproliferative disorder with partial trisomy 21

2015 ◽  
Vol 62 (11) ◽  
pp. 2021-2024 ◽  
Author(s):  
Takahide Takahashi ◽  
Akira Inoue ◽  
Junko Yoshimoto ◽  
Kiichiro Kanamitsu ◽  
Tomohiko Taki ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Partial Trisomy ◽  
Myeloproliferative Disorder ◽  
Transient Myeloproliferative Disorder

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

scholarly journals Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.

1981 ◽  
Vol 18 (5) ◽  
pp. 383-385
Author(s):  
A M Migliorini ◽  
R Coco ◽  
T C De Negrotti ◽  
J M Sanchez ◽  
G Castineyra
Keyword(s):  
Trisomy 21 ◽  
Partial Trisomy ◽  
Partial Monosomy

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.

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages

2019 ◽  
Vol 158 (2) ◽  
pp. 83-87
Author(s):  
Duygu Onur Cura ◽  
Elcin Bora ◽  
Hande Ozkalayci ◽  
Ozgur Kirbiyik ◽  
Yasar B. Kutbay ◽  
...  
Keyword(s):  
Female Patient ◽  
Microarray Analysis ◽  
Trisomy 21 ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Recurrent Miscarriages ◽  
Conventional Cytogenetics ◽  
Diagnostic Importance

The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

1996 ◽  
Vol 98 (4) ◽  
pp. 460-466 ◽  
Author(s):  
M. Nadal ◽  
M. Milà ◽  
Melanie Pritchard ◽  
Antonio Mur ◽  
Josep Pujals ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Chromosomal Translocation ◽  
Partial Trisomy ◽  
Fish Mapping
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