Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

摘要: The use of conventional cytogenetic techniques in combination with fluorescent situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification cryptic rearrangements diagnosis chromosomal syndromes. We report two siblings, a boy 9 years months age his 7-years- 5-month-old sister, classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- NOR-banding karyotypes, as well FISH analysis, we characterized pure 4p deletion both sibs balanced rearrangement their father, consisting an insertion material within nucleolar organizing region chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that siblings have similar size (~6.5 Mb). Our results strongly support need high-density microarray mapping optimal characterization genetic imbalance patients WHS; parents must always be studied recognizing adequate counseling.