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A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2
Author(s) -
Klopocki Eva,
Fiebig Britta,
Robinson Peter,
Tönnies Holger,
Erdogan Fikret,
Ropers HansHilger,
Mundlos Stefan,
Ullmann Reinhard
Publication year - 2006
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.31163
Subject(s) - monosomy , chromosome , biology , comparative genomic hybridization , genetics , breakpoint , neuregulin 1 , chromosome regions , gene , microbiology and biotechnology , karyotype
We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array‐based comparative genomic hybridization (array‐CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 and 8p21.2. Forty‐two known genes including gonadotropin‐releasing hormone 1 ( GNRH1 ), transcription factor EBF2 , exostosin‐like 3 ( EXTL3 ), glutathione reductase ( GSR ), and neuregulin 1 ( NRG1 ), are located within the deleted region on chromosome 8p. A comparison of our patient with the cases described in the literature is presented, and we discuss the genotype–phenotype correlation in our patient. This is the first report of array‐CGH analysis of an interstitial deletion at chromosome 8p. © 2006 Wiley‐Liss, Inc.