Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion.
10.3760/cma.j.issn.1003-9406.2015.05.019
- 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.