title: Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.
abstract: BACKGROUND
  Partial 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.
  
  
  METHODS
  We 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)(pter→q31::q31→q12::q31→qter)] and further application of comparative genomic hybridization array confirmed the diagnosis and offered a precise characterization of the genetic defect.
  
  
  CONCLUSIONS
  A 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.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion, Crete, Greece.
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Makarios
authors.initials: M
authors.lastname: Eleftheriades
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kappou
authors.forename: Roberta
authors.initials: R
authors.lastname: Murru
authors.forename: Anastasia
authors.initials: A
authors.lastname: Konstantinidou
authors.forename: Sandro
authors.initials: S
authors.lastname: Orru
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy; D014463:Ultrasonography
keywords: Comparative Genomic Hybridization array (a-CGH); chromosome 1; fluorescent in situ hybridization; prenatal diagnosis; trisomy 1q