TY - JOUR
TI - Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59Mb in 10p15.3-p14 and 4.22Mb in 10q26.3
AU - Christopoulou, G.
AU - Tzetis, M.
AU - Konstantinidou, A.E.
AU - Tsezou, A.
AU - Kanavakis, E.
AU - Kitsiou-Tzeli, S.
AU - Velissariou, V.
JO - European Journal of Medical Genetics
PY - 2012
VL - 55
TODO - 1
SP - 75-79
PB - 
SN - 1769-7212
TODO - 10.1016/j.ejmg.2011.08.002
TODO - transcription factor GATA 3, amniocentesis;  article;  autopsy;  case report;  chorioamnionitis;  chromosome 10;  chromosome analysis;  chromosome deletion;  comparative genomic hybridization;  echography;  fetus;  genetic association;  genetic counseling;  gestational age;  haploinsufficiency;  histopathology;  human;  hypertelorism;  macrocephaly;  macrostomia;  male;  micrognathia;  multiplex ligation dependent probe amplification;  nose malformation;  pes equinovarus;  pregnancy termination;  prenatal diagnosis;  ring chromosome;  syndactyly, Amniocentesis;  Autopsy;  Chromosome Deletion;  Chromosomes, Human, Pair 10;  Comparative Genomic Hybridization;  Fatal Outcome;  Female;  Fetus;  Genetic Association Studies;  Gestational Age;  Humans;  Male;  Pregnancy;  Pregnancy Outcome;  Prenatal Diagnosis;  Ring Chromosomes;  Ultrasonography, Prenatal
TODO - Ring chromosomes are rare cytogenetic findings and are mostly associated with an abnormal phenotype. We report on the prenatal diagnosis of a ring chromosome 10 in a fetus in which talipes equinovarus was incidentally found during routine obstetric ultrasound at 22 weeks of gestation. Amniocentesis was undertaken and cytogenetic analysis revealed a de novo non-mosaic apparently stable ring chromosome 10 replacing one of the two homologs. Multiplex Ligation-dependent Probe Amplification (MLPA) revealed subtelomeric deletions in both the short and long arm of chromosome 10. Analysis with high resolution micro-array based comparative genomic hybridization (array-CGH), defined the ring chromosome as del 10p15.3-p14 (12.59. Mb in size) and del 10q26.3 (4.22. Mb in size) and revealed the genes that are deleted. After elected termination of the pregnancy at 27th week of gestation a detailed autopsy of the fetus allowed for genotype-phenotype correlations. To our knowledge, this is the first case of a de novo ring chromosome 10 which is reported during prenatal diagnosis and is thoroughly investigated with array CGH and autopsy study. © 2011 Elsevier Masson SAS.
ER -