A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.
Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, People's Republic of China. fcyyzlj@163.com.
Qinying
Q
Cao
Yuanyuan
Y
Peng
Jun
J
Ge
Yanhua
Y
Zhang
Junzhen
J
Zhu
Lijuan
L
Zhao
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002894:Chromosomes, Human, Pair 4; D002895:Chromosomes, Human, Pair 5; D056915:DNA Copy Number Variations; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D059785:Karyotype; D007621:Karyotyping; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D055815:Young Adult