title: [Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].
abstract: OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.
authors.affiliation: Laboratory of Clinical Genetics, Department of Radiology, Department of Neonatology, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, P.R. China. Email: hlr196874222@126.com.
authors.forename: Qiong
authors.initials: Q
authors.lastname: Pan
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Jihua
authors.initials: J
authors.lastname: Ou
authors.forename: Xin
authors.initials: X
authors.lastname: Jin
authors.forename: Fengting
authors.initials: F
authors.lastname: Zhang
authors.forename: Yue
authors.initials: Y
authors.lastname: Hu
authors.forename: Longfei
authors.initials: L
authors.lastname: Cheng
authors.forename: Liangrong
authors.initials: L
authors.lastname: Han
authors.forename: Ying
authors.initials: Y
authors.lastname: Ning
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype