Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth retardation.
- Author:
Jing ZHOU
1
,
2
,
3
;
Ping HU
;
An LIU
;
Li LI
;
Xiuqing JI
;
Weirong HUI
;
Yan WANG
;
Zhengfeng XU
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Chromosomes, Human, Pair 4; Comparative Genomic Hybridization; methods; Female; Gene Deletion; Growth Disorders; diagnosis; genetics; Humans; Intellectual Disability; diagnosis; genetics; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2014;31(1):52-55
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze a child with developmental delay, severe mental retardation, speech delay and muscular hypotonia.
METHODSThe karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH).
RESULTSNo karyotypic abnormality was detected at cytogenetic level. However, array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child, which has a size of 12.1 Mb.
CONCLUSIONThe de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child. Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.
