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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
Author(s) -
VeraCarbonell Ascensión,
LópezGonzález Vanesa,
Bafalliu Juan Antonio,
PiñeroFernández Juan,
Susmozas Joaquín,
Sorli Moisés,
LópezPérez Rocío,
Fernández Asunción,
GuillénNavarro Encarna,
LópezExpósito Isabel
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36103
Subject(s) - gene duplication , dup , breakpoint , recombinant dna , chromosome , genetics , biology , medicine , gene
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.