Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Christopoulou, G.
Tzetis, M.
Konstantinidou, A.E.
Tsezou, A.
Kanavakis, E.
Kitsiou-Tzeli, S.
Velissariou, V.
Περιοδικό:
European Journal of Medical Genetics
Λέξεις-κλειδιά:
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
DOI:
10.1016/j.ejmg.2011.08.002
