A SYSTEMATIC CLINICAL REVIEW OF
PRENATALLY DIAGNOSED TETRASOMY 9p Vinkšel M, Volk M, Peterlin B, Lovrecic L* *Corresponding Author: Luca Lovrecic, M.D., Ph.D., Assistant Professor, Clinical Institute of Medical
Genetics, University Medical Centre Ljubljana, Zaloska cesta 002, SI-1000 Ljubljana, Slovenia. Tel:
+386-1-522-6057. Fax: +386-1-540-1137. E-mail: luca.lovrecic@kclj.si page: 11 download article in pdf format
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Abstract
Tetrasomy 9p was first described in 1973 and approximately
68 cases with a variable phenotype have been
reported to date with 22 of them being detected prenatally.
The objective of this study was to review prenatally-reported
cases of tetrasomy 9p thus far and to identify ultrasound
phenotypes that may be suggestive of this specific syndrome.
A PubMed database search was done in February
2018 without any restriction of publication date or journals,
with the use of the following keywords: tetrasomy 9p,
tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy
9p prenatal, isochromosome 9p, duplication 9p prenatal,
trisomy 9p prenatal. Reported cases were included if
the clinical presentation and diagnostic approach of each
case was clearly described. The most common characteristics
of prenatally-detected tetrasomy 9p are intrauterine
growth retardation (IUGR, 57.0%), central nervous system
(CNS) abnormalities (59.0%), skeletal anomalies (29.0%),
genitourinary and renal anomalies (29.0%) and cardiac
defects (29.0%). The phenotypic spectrum of tetrasomy
9p is rather unspecific as these findings are commonly
associated with other chromosome anomalies, as well as
microdeletion/microduplication or monogenic syndromes.
The combination of early fetal morphology and diagnostic
genetic testing enables a definite tetrasomy 9p diagnosis
and effective further pregnancy management.
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