Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy.
- Author:
Wenjun XIAO
1
;
Zhenkui GAO
;
Qian MENG
;
Man ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Chromosomes, Human, Pair 13; genetics; Chromosomes, Human, Pair 5; genetics; Cri-du-Chat Syndrome; diagnosis; genetics; Cytogenetics; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; diagnosis; genetics; Male; Trisomy; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2014;31(6):747-749
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.
METHODSThe patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature.
RESULTSThe neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).
CONCLUSIONA rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.