title: Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.
abstract: The nature and the origin of de novo small marker chromosome found at prenatal diagnosis were determined by fluorescence in situ hybridization (FISH) using chromosome centromere-specific probes and by chromosome in situ suppression (CISS) using chromosome specific libraries. The small marker was characterized as being derived from chromosome 22. The fetus which exhibited a minichromosome had kidney malformations and after birth showed clinical features consistent with the Duane anomaly. One previous case with Duane anomaly and abnormalities of urogenital tract associated to a bisatellitated marker derived from chromosome 22 was reported. These findings indicate that a gene or genes located in the region of chromosome 22pter-->q11 may be associated with the Duane anomaly and the development of the urogenital tract.
authors.affiliation: Servizio di Anatomia ed Istologia Patologica, Ospedale Multizonale, Varese, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Tibiletti
authors.forename: E
authors.initials: E
authors.lastname: Sala
authors.forename: D
authors.initials: D
authors.lastname: Colombo
authors.forename: S
authors.initials: S
authors.lastname: Arlati
authors.forename: T
authors.initials: T
authors.lastname: Varisco
authors.forename: G
authors.initials: G
authors.lastname: La Placa
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D004276:DNA, Satellite / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000196:embryology / Q000235:genetics*; D008297:Male; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D004276:DNA, Satellite