title: Deletion 2p15-16.1 syndrome: case report and review.
abstract: We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5 Mb of genomic DNA, shown by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations.
authors: Sezione di Genetica Medica, Università e Azienda Ospedaliera di Perugia, Italy.
authors: Paolo
authors: P
authors: Prontera
authors: Laura
authors: L
authors: Bernardini
authors: Gabriela
authors: G
authors: Stangoni
authors: Anna
authors: A
authors: Capalbo
authors: Daniela
authors: D
authors: Rogaia
authors: Rita
authors: R
authors: Romani
authors: Carmela
authors: C
authors: Ardisia
authors: Bruno
authors: B
authors: Dallapiccola
authors: Emilio
authors: E
authors: Donti
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002872:Chromosome Deletion; D007446:Chromosome Inversion / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics