title: De novo interstitial deletion in the long arm of chromosome 11: a case report.
abstract: The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, high-arched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China.
authors.forename: L L
authors.initials: LL
authors.lastname: Li
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China.
authors.forename: H G
authors.initials: HG
authors.lastname: Zhang
authors.affiliation: Dalian Municipal Women and Children's Medical Center, Dalian, China.
authors.forename: X G
authors.initials: XG
authors.lastname: Shao
authors.affiliation: School of Basic Medical Sciences, Jilin University, Changchun, China.
authors.forename: J C
authors.initials: JC
authors.lastname: Gao
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China.
authors.forename: H Y
authors.initials: HY
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China.
authors.forename: R Z
authors.initials: RZ
authors.lastname: Liu
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D006801:Humans; D007231:Infant, Newborn; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype