Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

• Published in: American journal of medical genetics. Part A Vol. 161A; no. 9; pp. 2369 - 2375
• Main Authors: Vera-Carbonell, Ascensión, López-González, Vanesa, Bafalliu, Juan Antonio, Piñero-Fernández, Juan, Susmozas, Joaquín, Sorli, Moisés, López-Pérez, Rocío, Fernández, Asunción, Guillén-Navarro, Encarna, López-Expósito, Isabel
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.09.2013; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adult; array-CGH analysis; Birth; Breakpoints; Chromosome 8; Chromosome Banding; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Chromosome Duplication; Chromosome Inversion; Chromosomes; Chromosomes, Human, Pair 8 - genetics; Comparative Genomic Hybridization; Facies; Female; FISH analysis; Gene duplication; Genotypes; Heart; Heart diseases; Humans; In Situ Hybridization, Fluorescence; Intellectual disabilities; pericentric inversion 8; Phenotype; Pregnancy; Prenatal Diagnosis; recombinant chromosome 8; Recombination, Genetic; SLV Rec8 syndrome; recombinant chromosome 8; FISH analysis; SLV Rec8 syndrome; pericentric inversion 8; array-CGH analysis
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36103

San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well‐established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array‐CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ∼2.27 Mb (8p23.2‐pter) and a duplication of ∼41.93 Mb (8q22.3‐qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. The phenotypic characteristics associated with this SLV Rec8 genotype overlap those commonly found in patients with 8q duplication reported in the literature. We review SLV Rec8 and other chromosome 8 aberrations and suggest that the overexpression of cardiogenic genes located at 8q may be the cause of the cardiac defects in this patient. © 2013 Wiley Periodicals, Inc.