title: Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.
abstract: Submicroscopic rearrangements involving chromosome ends are responsible for the unexplained mental retardation and multiple congenital anomalies observed in a number of patients. We have studied a patient with mental retardation, significant microcephaly, alopecia universalis, and other anomalies who carries an unbalanced segregant from a cryptic reciprocal translocation involving chromosomes 9 and 19. FISH studies using subtelomere specific probes revealed a derivative chromosome 9 in which the 9q subtelomeric sequence has been replaced by 19p subtelomeric sequence. As a result, the patient has partial monosomy 9q and partial trisomy 19p. The patient inherited the derivative 9 from his father, who carries a cryptic apparently balanced reciprocal translocation involving the terminal regions of 9q and 19p. This case is exceptional in that reports of rearrangements involving distal chromosome 9q and 19p are rare. This study demonstrates the utility of subtelomere specific FISH probes for detecting cryptic subtelomeric rearrangements in patients with idiopathic mental retardation and normal appearing karyotypes.
authors.affiliation: McLendon Clinical Laboratories, Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
authors.forename: Denise I
authors.initials: DI
authors.lastname: Quigley
authors.forename: Kathleen
authors.initials: K
authors.lastname: Kaiser-Rogers
authors.forename: Arthur S
authors.initials: AS
authors.lastname: Aylsworth
authors.forename: Kathleen W
authors.initials: KW
authors.lastname: Rao
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D008297:Male; D015341:Nucleic Acid Probes / Q000235:genetics; D016615:Telomere / Q000235:genetics
chemical_list: D015341:Nucleic Acid Probes