title: Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).
abstract: We describe an infant girl with an interstitial deletion of chromosome bands 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5)(p23;q33q35) which was demonstrated by fluorescent in situ hybridization with whole chromosome paints. Physical anomalies included hypertonicity, microcephaly, short neck, apparently low-set ears, micrognathia, camptodactyly, mild rocker bottom feet, and hammer toe. Cardiac anomalies included a large ventricular septal defect, patent ductus arteriosus, pulmonary hypertension and hypoplastic right ventricle. She died at age 3 months.
authors.affiliation: Cytogenetics Laboratory, Gleneagles Hospital, Singapore.
authors.forename: B
authors.initials: B
authors.lastname: Gibbons
authors.forename: S Y
authors.initials: SY
authors.lastname: Tan
authors.forename: S K
authors.initials: SK
authors.lastname: Kee
authors.forename: R
authors.initials: R
authors.lastname: Quaife
authors.forename: S T
authors.initials: ST
authors.lastname: Lim
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome