Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental …
C Schluth-Bolard, F Diguet, N Chatron… - Journal of Medical …, 2019 - jmg.bmj.com
Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …
are rare events, but may be challenging for genetic counselling, since molecular …
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
Background Chromothripsis, which is the local massive shattering of one or more
chromosomes and their reassembly in a disordered array with frequent loss of some …
chromosomes and their reassembly in a disordered array with frequent loss of some …
Balanced reciprocal translocation: Multiple chromosome rearrangements in an infertile female
N Gupta, R Dalvi, N Koppaka… - Journal of Human …, 2019 - journals.lww.com
Double reciprocal translocations and triple-balanced reciprocal translocations multiple
chromosome rearrangements are very rare events in the phenotypically normal individuals …
chromosome rearrangements are very rare events in the phenotypically normal individuals …
Evaluation of pregnancies in 25 families with balanced/unbalanced chromosomal translocations
NAZ GÜLERAY, H Yucesoy… - INTERNATIONAL …, 2019 - avesis.hacettepe.edu.tr
The researchers evaluated pregnancies in families with balanced/unbalanced
translocations. This clinical cohort consisted of 25 pregnancies with balanced/unbalanced …
translocations. This clinical cohort consisted of 25 pregnancies with balanced/unbalanced …
Acerca de ciertas variaciones estructurales del genoma humano
LAM Rosado, JE Galarza-Brito - Revista Cubana de Genética …, 2019 - revgenetica.sld.cu
En el genoma humano aparecen variaciones que aparentemente no implican cambios
deletéreos, y que se diagnostican mediante técnicas de citogenética convencional o …
deletéreos, y que se diagnostican mediante técnicas de citogenética convencional o …