Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

2000 ◽  
Vol 92 (2) ◽  
pp. 147-152 ◽  
Author(s):  
Gita Tan-Sindhunata ◽  
S�rgio Castedo ◽  
Beike Leegte ◽  
Irma Mulder ◽  
Anneke Y. vd Veen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Ring Chromosome ◽  
Chromosome 7 ◽  
Molecular Cytogenetic ◽  
Abnormal Phenotype ◽  
Cytogenetic Characterization ◽  
Ring Chromosome 7

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

2008 ◽  
Vol 146A (22) ◽  
pp. 2955-2959 ◽  
Author(s):  
Veronica Bertini ◽  
Angelo Valetto ◽  
Angela Uccelli ◽  
Alice Bonuccelli ◽  
Enrico Tarantino ◽  
...  
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 7 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Ring Chromosome 7

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.

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

2004 ◽  
Vol 130A (4) ◽  
pp. 340-344 ◽  
Author(s):  
Z. Tümer ◽  
T.L. Harboe ◽  
E. Blennow ◽  
V.M. Kalscheuer ◽  
N. Tommerup ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 15 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Gene ◽  
2013 ◽  
Vol 529 (1) ◽  
pp. 163-168 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chin-Han Tsai ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Jun-Wei Su ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 13 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization
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