A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
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.
Klopocki
Eva
E
Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. eva.klopocki@charite.de
Fiebig
Britta
B
Robinson
Peter
P
Tönnies
Holger
H
Erdogan
Fikret
F
Ropers
Hans-Hilger
HH
Mundlos
Stefan
S
Ullmann
Reinhard
R
D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D004247:DNA; D002658:Developmental Disabilities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D010523:Peripheral Nervous System Diseases / Q000235:genetics
D004247:DNA