title: De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.
abstract: Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.
authors.affiliation: Cytogenetics Laboratory, Department of Pathology, University of Arkansas for Medical Sciences, Little Rock 72204, USA. sawyerjeffreyr@uams.edu
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Sawyer
authors.forename: Regina Lichti
authors.initials: RL
authors.lastname: Binz
authors.forename: Charles M
authors.initials: CM
authors.lastname: Swanson
authors.forename: Cynthia
authors.initials: C
authors.lastname: Lim
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D014314:Trisomy