title: Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
abstract: We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without genomic imbalances in other chromosomes. Cytogenetic analysis revealed a karyotype of 46,XX,der(7)(7pter-->7q32),der(11)(11pter--> 11q23.3::7q32-->7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C-P
authors.initials: CP
authors.lastname: Chen
authors.forename: S-P
authors.initials: SP
authors.lastname: Lin
authors.forename: C-H
authors.initials: CH
authors.lastname: Hsu
authors.forename: S-R
authors.initials: SR
authors.lastname: Chern
authors.forename: J-W
authors.initials: JW
authors.lastname: Su
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Chen
authors.forename: C-W
authors.initials: CW
authors.lastname: Pan
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000235:genetics*; D059785:Karyotype; D007621:Karyotyping; D017384:Sequence Deletion / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*