Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation

2015 ◽  
Vol 167 (8) ◽  
pp. 1859-1864 ◽  
Author(s):  
Jungyoon Choi ◽  
Hojung Lee ◽  
Cha Gon Lee
Keyword(s):  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Low Level

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

2020 ◽  
Vol 41 (2) ◽  
pp. 175-182
Author(s):  
Katsuhiro Hosono ◽  
Kazuhide Kawase ◽  
Kentaro Kurata ◽  
Yusuke Niimi ◽  
Hirotomo Saitsu ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Partial Monosomy

Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

2017 ◽  
Vol 151 (4) ◽  
pp. 171-178 ◽  
Author(s):  
Emanuele G. Coci ◽  
Andrea Auhuber ◽  
Anna Langenbach ◽  
Kristin Mrasek ◽  
Joachim Riedel ◽  
...  
Keyword(s):  
Genetic Material ◽  
Partial Trisomy ◽  
The Body ◽  
Neuropsychological Impairment ◽  
Unbalanced Translocation ◽  
Speech Impairment ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Neurodevelopmental Delay ◽  
Genetic Assessment

Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.

Unbalanced Translocation Involving Partial Trisomy 9p and Partial Monosomy Yq With Neurodevelopmental Delays

2012 ◽  
Vol 28 (4) ◽  
pp. 524-526 ◽  
Author(s):  
Michael J. Lyons ◽  
Joshua D. Fuller ◽  
Maria del Carmen Montoya ◽  
Barbara R. DuPont ◽  
Kenton R. Holden
Keyword(s):  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Partial Monosomy ◽  
Trisomy 9P

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)

2012 ◽  
Vol 21 (4) ◽  
pp. 200-203 ◽  
Author(s):  
Emilie Maciejewski ◽  
Jacqueline Vigneron ◽  
Laetitia Lambert ◽  
Céline Bonnet ◽  
Jean-Michel Hascoët
Keyword(s):  
Down Syndrome ◽  
De Novo ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Unbalanced Translocation

scholarly journals Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Frenny Sheth ◽  
Naresh Gohel ◽  
Thomas Liehr ◽  
Olakanmi Akinde ◽  
Manisha Desai ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Unusual Case ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Phenotypic Changes ◽  
Cri Du Chat Syndrome ◽  
5P Deletion

Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassingCTNND2due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1–34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case.Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

scholarly journals Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements

2020 ◽  
Vol 23 (2) ◽  
pp. 79-86
Author(s):  
F Stipoljev ◽  
M Barbalic ◽  
M Logara ◽  
A Vicic ◽  
M Vulic ◽  
...  
Keyword(s):  
Late Pregnancy ◽  
Partial Trisomy ◽  
Cystic Hygroma ◽  
Fish Analysis ◽  
Unbalanced Translocation ◽  
Balanced Translocation ◽  
Partial Monosomy ◽  
Sonographic Examination ◽  
Gene Map

Abstract We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks’ gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25.1; p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus. Parental cytogenetic evaluation using karyotyping and FISH analysis showed the presence of both a balanced translocation and a paracentric inversion in father t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication of 10.5 Mb at the 2p25.3-p25 region. The duplicated region at 2p25.1p25.3 contains 45 different genes, where 12 are reported as OMIM morbid genes with different phenotypical implications. The deleted region at 3p26.3-p25.3 contains 65 genes, out of which 27 are OMIM genes. Three of these (CNTN4, SETD5 and VHL) were curated by Clingene Dosage Gene Map and were given a high haplo-insufficiency score. Genes affected by the unbalanced translocation could have contributed to some specific phenotypic changes of the fetus in late pregnancy. The application of different cytogenetic methods was essential in our case, allowing the detection of different types of structural chromosomal aberrations and more thorough genetic counseling for future pregnancies.

Distal Trisomy of 10q with Distal Monosomy of 15q Due to a Paternal Translocation

2009 ◽  
Vol 37 (4) ◽  
pp. 1230-1237 ◽  
Author(s):  
Sun Shunchang ◽  
FW Luo ◽  
HW Song ◽  
JB He ◽  
YS Peng
Keyword(s):  
Male Infant ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Chromosome 15 ◽  
Unbalanced Translocation ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Chromosomal Breakpoints ◽  
Microarray Comparative Genomic Hybridization

Distal trisomy of 10q is a rare chromosomal abnormality. Distal deletions of the terminal long arm of chromosome 15 have rarely been described. We report on a male infant with low birth weight and microcephaly, a flat face with a spacious forehead, low-set ears, blepharophimosis, microphthalmia, a small nose, and a depressed nasal bridge. Microarray comparative genomic hybridization identified that he had the karyotype 46, XY, der (15) t (10;15) (q25.2;q26.2) pat, with chromosomal breakpoints at 10q25.2 and 15q26.2. This male neonatal case had an unbalanced translocation inherited from his father who was a balanced carrier with the karyotype 46, XY, t (10;15) (q25;q26). The neonate had a partial trisomy of the long arm of chromosome 10 with a partial monosomy of distal 15q. The clinical features were in agreement with previous descriptions and allowed us to propose a growth retardation phenotype for this neonate case.

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