Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 747-749, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-291690
ABSTRACT
<p><b>OBJECTIVE</b>To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).</p><p><b>CONCLUSION</b>A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Trisomy
/
Chromosomes, Human, Pair 5
/
Chromosomes, Human, Pair 13
/
Cri-du-Chat Syndrome
/
Cytogenetics
/
Diagnosis
/
Genetics
/
Infant, Newborn, Diseases
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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