Characterization of i(18p) in prenatal diagnosis by fluorescencein situ hybridization

1993 ◽  
Vol 13 (5) ◽  
pp. 355-361 ◽  
Author(s):  
Loh-Chung Yu ◽  
John Williams ◽  
Boris B. T. Wang ◽  
Marc Vooljs ◽  
Heinz-Ulrich G. Weier ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fluorescencein Situ Hybridization

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Vincenzo Altieri ◽  
Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Molecular Characterization ◽  
Marker Chromosome

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis

Blood ◽  
1987 ◽  
Vol 69 (4) ◽  
pp. 1141-1145 ◽  
Author(s):  
FF Chehab ◽  
V Der Kaloustian ◽  
FP Khouri ◽  
SS Deeb ◽  
YW Kan
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Basis ◽  
Asian Indians ◽  
Mediterranean Area ◽  
Beta Thalassemia ◽  
New Mutation ◽  
The Mediterranean ◽  
Cooley's Anemia ◽  
Chromosome Haplotype

Abstract A study of the molecular lesions of beta-thalassemia in Lebanon revealed the presence of eight different mutations in 25 patients with Cooley's anemia. The IVS1 position 110 mutation predominated with a frequency of 62% and was almost invariably associated with Mediterranean chromosome haplotype I. Five other mutations commonly found in the Mediterranean area occurred with frequencies of 2% to 8%. In addition a G----C substitution in IVS1 position 5 (a lesion previously found in Chinese and Asian Indians) was demonstrated in a patient with Mediterranean haplotype IX. A new mutation at codon 29 was found in two other patients with haplotype II. The characterization of these beta-thalassemia mutations should allow the implementation of a prenatal diagnosis program in that country.

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