Τίτλος:
Prenatal Diagnosis of Proximal Partial Trisomy 1q Confirmed by
Comparative Genomic Hybridization Array: Molecular Cytogenetic Analysis,
Fetal Pathology and Review of the Literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
BACKGROUNDPartial trisomy of the long arm of chromosome 1 (1q) is an
exceptionally rare chromosomal abnormality and most of the prenatally
diagnosed cases are associated with either complete (q11-qter) or large
(q21-qter) duplications with pre- or perinatal demise of all reported
cases. The most common sonographic findings associated with this
karyotype abnormality include ventriculomegaly, increased nuchal
translucency or nuchal fold, renal and cardiac abnormalities,
craniofacial dysmorphism, and limb deformities. However, there is a wide
spectrum of clinical manifestations due to the great variability in the
extent of the duplication size and the possible contribution of
additional genetic rearrangements in the final phenotype.
CASE REPORTWe report on a female fetus with sole partial trisomy 1q
presenting with multiple structural malformations in the second
trimester scan. Standard karyotyping demonstrated a large duplication on
the proximal end of chromosome 1
[46,XX,dup(1)(pterq31::q31q12::q31qter)] and further application of
comparative genomic hybridization array confirmed the diagnosis and
offered a precise characterization of the genetic defect.
CONCLUSIONA fetus with nonmosaic partial trisomy 1q that was prenatally
diagnosed upon multiple abnormal ultrasound findings is presented. A
detailed review of the currently available literature on the prenatal
diagnostic approach of partial trisomy 1q in terms of fetal sonographic
assessment and molecular cytogenetic investigation is also provided. The
use of novel molecular techniques such comparative genomic hybridization
array could shed further light on the correlation between the genes
identified in the chromosomal region of interest and the resultant
phenotype. Birth Defects Research (Part A) 100:284-293, 2014. (c) 2014
Wiley Periodicals, Inc.
Συγγραφείς:
Sifakis, Stavros
Eleftheriades, Makarios
Kappou, Dimitra and
Murru, Roberta
Konstantinidou, Anastasia
Orru, Sandro and
Ziegler, Monika
Liehr, Thomas
Manolakos, Emmanouil and
Papoulidis, Ioannis
Περιοδικό:
Birth Defects Research Part A: Clinical and Molecular Teratology
Λέξεις-κλειδιά:
chromosome 1; Comparative Genomic Hybridization array (a-CGH);
fluorescent in situ hybridization; prenatal diagnosis; trisomy 1q
