A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

2005 ◽  
Vol 139A (2) ◽  
pp. 146-150 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
...  
Keyword(s):  
Inverted Duplication

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome

2021 ◽  
Vol 132 ◽  
pp. S278
Author(s):  
Alissa Wlodaver ◽  
Edward Caparelli ◽  
Rebekah Turner ◽  
Mercedes Silva ◽  
Marisa Klein-Gitelman ◽  
...  
Keyword(s):  
Inverted Duplication ◽  
Griscelli Syndrome

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

2009 ◽  
Vol 29 (11) ◽  
pp. 1058-1060 ◽  
Author(s):  
Ni-Chung Lee ◽  
Shun-Ping Chang ◽  
Cheng-Shyong Chang ◽  
Chia-Hsiang Chen ◽  
Dong-Jay Lee ◽  
...  
Keyword(s):  
Inverted Duplication ◽  
Multicolor Banding ◽  
Subtelomeric Deletion ◽  
Chromosome 18Q

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome

2021 ◽  
Vol 64 (1) ◽  
pp. 104118
Author(s):  
Minh-Tuan Huynh ◽  
Anne-Sophie Riteau ◽  
Kamran Moradkhani ◽  
Olivier Pichon ◽  
Sébastien Richard ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosome 8 ◽  
Deletion Syndrome ◽  
Inverted Duplication ◽  
Structural Abnormalities

scholarly journals Mitochondrial dysfunction in autistic patients with 15q inverted duplication

2003 ◽  
Vol 53 (6) ◽  
pp. 801-804 ◽  
Author(s):  
Pauline A. Filipek ◽  
Jenifer Juranek ◽  
Moyra Smith ◽  
Lee Z. Mays ◽  
Erica R. Ramos ◽  
...  
Keyword(s):  
Mitochondrial Dysfunction ◽  
Inverted Duplication
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