title: Complex familial rearrangement of chromosome 9p24.3 detected by FISH.
abstract: We describe a newborn male with minor facial anomalies, pyloric stenosis, and a chromosome rearrangement that involves deletion and addition of material at 9p24.3. Routine studies showed a 46, XY, add (9) (p24) karyotype. Fluorescence in situ hybridization (FISH) with two different whole chromosome probes for chromosome 9 failed to identify whether the additional material was derived from that chromosome. FISH with single copy YAC probes from 9p24 (D9S1858, D9S1813 and D9S54) showed a more complex rearrangement involving a deletion at D9S1858 but not at D9S1813 or D9S54. Parental chromosome studies demonstrated an apparently identical 9p abnormality in the patient's mother. This report describes a familial chromosome rearrangement in an abnormal child and his normal mother and demonstrates the use and limitations of FISH in characterizing chromosomal abnormalities.
authors.affiliation: Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: G M
authors.initials: GM
authors.lastname: Repetto
authors.forename: J
authors.initials: J
authors.lastname: Wagstaff
authors.forename: B R
authors.initials: BR
authors.lastname: Korf
authors.forename: J H
authors.initials: JH
authors.lastname: Knoll
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D011707:Pyloric Stenosis