Clinical and genetic study of a child with mental retardation and multiple congenital anomalies and a 16p13.11 microdeletion.
- Author:
Huanhuan WANG
1
;
Bing XIAO
;
Hui YE
;
Qin HU
;
Wenjuan QIU
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; genetics; Chromosome Deletion; Chromosomes, Human, Pair 16; Humans; Infant; Intellectual Disability; genetics; Karyotyping; Male; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide
- From: Chinese Journal of Medical Genetics 2016;33(4):485-489
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the genetic cause for a boy with development delay and multiple congenital anomalies.
METHODSRoutine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to investigate cryptic chromosome aberrations, and quantitative real-time PCR (qPCR) was used to confirm the result.
RESULTSKaryotype analysis revealed no obvious anomaly for the patient and his parents. The karyotype of the patient was 46,XY. SNP array has detected an 846 kb deletion at 16p13.11, which was verified by qPCR. Clinical features of the patient included development delay, distinct facial dysmorphism and multiple congenital anomalies.
CONCLUSIONA case of 16p13.11 microdeletion syndrome was identified. The deletion was probably induced by non-allelic homologous recombination (NAHR) at 16p13.11. SNP array and qPCR were helpful for the discovery of the microdeletion and have played an important role in the diagnosis and genetic counseling of the patient.
