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. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Meloni, VAyres, Guilherme, RSantos, Oliveira, MMoyses, Migliavacca, M, Takeno, SSatomi, Sobreira, NLygia Mace, Soares, Mde Fatima, de Mello, CBerlim, Melaragno, MIsabel |
Journal | Am J Med Genet A |
Volume | 164A |
Issue | 9 |
Pagination | 2378-84 |
Date Published | 2014 Sep |
ISSN | 1552-4833 |
Keywords | Adolescent, Base Pairing, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 6, Cytogenetic Analysis, Fathers, Female, Follow-Up Studies, Humans, Infant, Newborn, Inheritance Patterns, Male, Mutagenesis, Insertional, Siblings |
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. |
DOI | 10.1002/ajmg.a.36631 |
Alternate Journal | Am. J. Med. Genet. A |
PubMed ID | 24898331 |
PubMed Central ID | PMC4882109 |
Grant List | T32 GM007471 / GM / NIGMS NIH HHS / United States U54 HG006542 / HG / NHGRI NIH HHS / United States 1U54HG006542 / HG / NHGRI NIH HHS / United States |