scholarly journals Isolated Chromosome 6q27 Terminal Deletion Syndrome

Cureus ◽  
2020 ◽  
Author(s):  
Sabita Bhatta ◽  
Marsha Medows ◽  
Yogesh Acharya
Keyword(s):  
Terminal Deletion ◽  
Deletion Syndrome

Dental findings in 14q terminal deletion syndrome

2014 ◽  
Vol 23 (2) ◽  
pp. 60-62 ◽  
Author(s):  
Bryce A. Mendelsohn ◽  
Linda L.B. Jeng ◽  
Snehlata Oberoi ◽  
Ophir D. Klein
Keyword(s):  
Terminal Deletion ◽  
Deletion Syndrome

Unusual Form of Obstructive Hydrocephalus in Association with 6q Terminal Deletion Syndrome: A Case Report and Literature Review

2019 ◽  
Vol 54 (6) ◽  
pp. 419-423 ◽  
Author(s):  
Hirofumi Iwamoto ◽  
Ai Muroi ◽  
Tomokazu Sekine ◽  
Takao Tsurubuchi ◽  
Eiichi Ishikawa ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Obstructive Hydrocephalus ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Unusual Form

Further delineation of the chromosome 14q terminal deletion syndrome

2002 ◽  
Vol 110 (1) ◽  
pp. 65-72 ◽  
Author(s):  
Clara D.M. van Karnebeek ◽  
Safira Quik ◽  
Sigrid Sluijter ◽  
Miriam M.F. Hulsbeek ◽  
Jan M.N. Hoovers ◽  
...  
Keyword(s):  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Chromosome 14Q

Bilateral absence of the ulna in 4q terminal deletion syndrome

2015 ◽  
Vol 24 (3) ◽  
pp. 122-124 ◽  
Author(s):  
Tyson Meaux ◽  
Amy Zeringue ◽  
Christy Mumphrey ◽  
Brian Barkemeyer ◽  
Michael Marble
Keyword(s):  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Bilateral Absence

scholarly journals A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

2004 ◽  
Vol 49 (8) ◽  
pp. 440-444 ◽  
Author(s):  
Naoki Harada ◽  
Remco Visser ◽  
Angie Dawson ◽  
Makoto Fukamachi ◽  
Mie Iwakoshi ◽  
...  
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Deletion Syndrome

6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

Epilepsia ◽  
2006 ◽  
Vol 47 (5) ◽  
pp. 830-838 ◽  
Author(s):  
Maurizio Elia ◽  
Pasquale Striano ◽  
Marco Fichera ◽  
Roberto Gaggero ◽  
Lucia Castiglia ◽  
...  
Keyword(s):  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Clinical Pattern

scholarly journals IUGR is Commonly Observed among Prenatally Diagnosed Chromosome 4p Deletion Syndrome

2021 ◽  
Vol 8 (2) ◽  
Author(s):  
Su JS ◽  
◽  
Chan YM ◽  
Cao Y ◽  
Yang SH ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Clinical Information ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Prenatal Ultrasound ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Ultrasound Findings ◽  
Additional Chromosomal Abnormalities ◽  
Embryonic Arrest

Objective: our study aimed at retrospectively assessing the abnormal prenatal ultrasound findings of chromosome 4p deletion syndrome. Methods: 21 cases with abnormal sonographic signs revealed 4p deletion by Chromosome Microarray (CMA) in this retrospective analysis. Clinical information and molecular basis of this cohort were compared with those from other two groups in China, the critical region related to special ultrasound findings was mapped with the smallest regions of overlap. Results: This is the largest prenatal series to evaluate the prenatal ultrasound features of 4p deletion syndrome detected by CMA. Firstly we refined the relationship between the genomic coordinates with IUGR in chromosome 4p terminal deletion syndrome. Additional chromosomal abnormalities was identified in 12 cases. Intrauterine embryonic arrest was diagnosed at first trimester for 9 cases. The most consistent ultrasound indicator was IUGR (95.5%), and the smallest region response for IUGR correspond to a 2.05Mb at 4p16.3-pter (chr4: 68,345-2,121,057, hg19). Increased Nuchal Translucency (NT) could be a risk factor for predicting WHS at first-trimester pregnancy with the rate of 16.6% from our data. A 3.6Mb microdeletion located at 4p16.3-pter (chr4: 68,345-3,753,422, hg19) might be the candidate region associated with increased NT. Conclusion: We identified IUGR as the most common feature in prenatal 4p terminal deletion and Wolf-Hirschhorn syndrome. The existence of additional CNVs may contribution to possible explanations for the clinical heterogeneity of this syndrome. Prenatal findings of IUGR, increased NT or early spontaneous abortion should warrant the diagnosis of 4p terminal deletion WHS.

scholarly journals A Prenatally AscertainedDe NovoTerminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Carolina Sismani ◽  
Georgia Christopoulou ◽  
Angelos Alexandrou ◽  
Paola Evangelidou ◽  
Jacqueline Donoghue ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Umbilical Artery ◽  
Congenital Abnormalities ◽  
Chromosome 1 ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Single Umbilical Artery ◽  
Female Fetus ◽  
Pierre Robin ◽  
Chromosomal Bands

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs) and a single umbilical artery (SUA) and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS). Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

scholarly journals Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

2021 ◽  
Vol 12 ◽  
Author(s):  
Liang-Liang Fan ◽  
Yue Sheng ◽  
Chen-Yu Wang ◽  
Ya-Li Li ◽  
Ji-Shi Liu
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Candidate Genes ◽  
De Novo ◽  
Chromosome Region ◽  
Single Nucleotide Polymorphism Array ◽  
Chinese Patient ◽  
Terminal Deletion ◽  
Deletion Syndrome

7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985–156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.

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