title: Prenatal detection of deletion 6q13q15 in a complex karyotype.
abstract: OBJECTIVE
  Prenatal diagnosis of a pregnancy with elevated maternal serum alpha-fetoprotein identified a karyotype with a complex chromosomal rearrangement, a Robertsonian translocation and a 6q deletion involving bands q13q15. Sonography identified mild IUGR, polyhydramnios and micrognathia. The infant presented with multiple congenital anomalies, primarily limited to the head and neck, including hypertelorism, broad nose, micrognathia, cleft palate, microglossia and low-set ears with microtia.
  
  
  METHODS
  Amniocytes of the fetus and blood of the patient and her parents were analyzed by cytogenetics and fluorescence in situ hybridization.
  
  
  RESULTS
  The karyotype on the fetus was 45,XX,t(3;21;20)(p12;q11.2;p11.2), del(6)(q13q15),der(13;14) (q10;q10)mat.
  
  
  CONCLUSIONS
  The 13;14 Robertsonian translocation was inherited from the mother and the three-way translocation appeared to be balanced. The patient had facial dysmorphology similar to that which has been described in 6 previously reported cases with the same deletion involving 6q13q15. There was no recognizable abnormality of limbs or digits, and the autopsy did not identify defects involving the internal organs.
authors.affiliation: Department of Pathology, West Virginia University, Morgantown 26505, USA.
authors.forename: Min
authors.initials: M
authors.lastname: Yu
authors.forename: Angela C
authors.initials: AC
authors.lastname: Obringer
authors.forename: Melissa H
authors.initials: MH
authors.lastname: Fowler
authors.forename: Marybeth
authors.initials: M
authors.lastname: Hummel
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Wenger
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D000650:Amnion / Q000166:cytology; D002896:Chromosomes, Human, Pair 6; D020732:Cytogenetic Analysis; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic