title: Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.
abstract: The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Vera Ayres
authors.initials: VA
authors.lastname: Meloni
authors.forename: Roberta Santos
authors.initials: RS
authors.lastname: Guilherme
authors.forename: Mariana Moyses
authors.initials: MM
authors.lastname: Oliveira
authors.forename: Michele
authors.initials: M
authors.lastname: Migliavacca
authors.forename: Sylvia Satomi
authors.initials: SS
authors.lastname: Takeno
authors.forename: Nara Lygia Macena
authors.initials: NL
authors.lastname: Sobreira
authors.forename: Maria
authors.initials: M
authors.lastname: de Fatima Faria Soares
authors.forename: Claudia Berlim
authors.initials: CB
authors.lastname: de Mello
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D000293:Adolescent; D020029:Base Pairing / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005220:Fathers; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics*; D035781:Siblings
keywords: aortic coarctation; array; chromosome 6; clinical follow-up; congenital heart disease; cytogenomics; interstitial deletion