title: Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities.
abstract: BACKGROUND
  Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay.
  
  
  METHODS
  The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination. Array-based comparative genomic hybridization (a-CGH) revealed a 2,7 Mb deletion located on 1p34.3 which could not be detected by standard karyotyping.
  
  
  CONCLUSIONS
  This is the first prenatal case of an interstitial deletion in 1p34.3 with facial dysmorphism detected by a-CGH. Due to the use of a-CGH techniques submicroscopic imbalances could be detected, and a refined genotype-phenotype correlation could be achieved.
authors.affiliation: 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece ; Embryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece.
authors.forename: Themistoklis
authors.initials: T
authors.lastname: Dagklis
authors.affiliation: Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece.
authors.forename: Elena
authors.initials: E
authors.lastname: Papageorgiou
authors.affiliation: Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece.
authors.forename: Elisavet
authors.initials: E
authors.lastname: Siomou
authors.affiliation: Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece.
authors.forename: Vassilis
authors.initials: V
authors.lastname: Paspaliaris
authors.affiliation: Embryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece.
authors.forename: Christina
authors.initials: C
authors.lastname: Zerva
authors.affiliation: 2nd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece.
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Chatzis
authors.affiliation: Developmental assessment unit, 2nd department of pediatrics, P. & A. Kyriakou children's hospital, School of medicine, National and Kapodistrian University of Athens, Athens, Greece.
authors.forename: Loretta
authors.initials: L
authors.lastname: Thomaidis
authors.affiliation: Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece ; Developmental assessment unit, 2nd department of pediatrics, P. & A. Kyriakou children's hospital, School of medicine, National and Kapodistrian University of Athens, Athens, Greece ; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
authors.affiliation: Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
keywords: Array-based Comparative Genomic Hybridization array (a-CGH); Chromosome 1; Genotype-phenotype correlation; Microdeletions; Prenatal diagnosis