title: De novo 1q32q44 duplication and distal 1q trisomy syndrome.
abstract: We report on an infant with minor anomalies and a de novo 1q duplication. The chromosomal abnormality was diagnosed prenatally after sonographic detection of cerebral ventriculomegaly and bilateral choroid plexus cysts in the fetus. The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward-slanting palpebral fissures, a high-arched and narrow palate, malformed ears, and long feet with overriding second and third toes. This is the sixth case of known duplication involving the 1q32q44 segment; the physical findings in the case reported herein are similar to those of other patients reported previously, providing further evidence of the existence of the "distal 1q trisomy" phenotype.
authors.affiliation: Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. nowaczyk@hhsc.ca
authors.forename: Małgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: Jane
authors.initials: J
authors.lastname: Bayani
authors.forename: Viola
authors.initials: V
authors.lastname: Freeman
authors.forename: John
authors.initials: J
authors.lastname: Watts
authors.forename: Jeremy
authors.initials: J
authors.lastname: Squire
authors.forename: Jie
authors.initials: J
authors.lastname: Xu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020223:Chromosome Painting; D002878:Chromosomes, Human, Pair 1; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D011296:Prenatal Diagnosis; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*