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.

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

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.

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
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