Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion.

VernacularTitle:18号染色体短臂部分缺失导致多发畸形的临床表型及遗传学分析
Author: Qiong PAN ¹ ; Ping HU ; Jihua OU ; Xin JIN ; Fengting ZHANG ; Yue HU ; Longfei CHENG ; Liangrong HAN ; Ying NING
Author Information

1. 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.
Publication Type:Case Reports
MeSH: Abnormalities, Multiple; genetics; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 18; Female; Humans; Infant, Newborn; Phenotype
From: Chinese Journal of Medical Genetics 2015;32(5):695-699
CountryChina
Language:Chinese
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.