title: Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.
abstract: BACKGROUND
  To the best of our knowledge, this is the third report concerning 4q21q22 deletions. In this report, we describe the cases of two girls with 4q deletion and polycystic kidney disease. G-banding confirmed the deletion in one patient but not in the other.
  
  
  METHODS
  We describe the cases of two girls with 4q deletion and polycystic kidney disease. Chromosomal deletions were mapped to 4q21-22. One patient had a simple 4q contiguous gene deletion, whereas the other patient had a complicated chromosomal rearrangement. In patient 1, a smaller part of the 4q deletion was translocated to the 3p region.
  
  
  RESULTS
  Fifty-four genes and 72 genes were deleted in patients 1 and 2, respectively. In both patients, 52 genes were consistently deleted.
  
  
  CONCLUSIONS
  The present two patients had a similar phenotype, including severe growth and developmental retardation, and a characteristic facial appearance. The loss of RPKG2 and RASGEF1B causes severe growth defect. PKD2 loss causes kidney cysts.
authors.affiliation: Department of Pediatrics, Koshigaya Hospital, Dokkyo Medical University, Saitama, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.affiliation: Department of Pediatrics, Koshigaya Hospital, Dokkyo Medical University, Saitama, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Kido
authors.affiliation: Department of Pediatrics, Koshigaya Hospital, Dokkyo Medical University, Saitama, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Murakami
authors.affiliation: Department of Pediatrics, Koshigaya Hospital, Dokkyo Medical University, Saitama, Japan.
authors.forename: Tomoyo
authors.initials: T
authors.lastname: Matsubara
authors.affiliation: Department of Genetic Counseling, Graduate School of Human Genetics and Science, Ochanomizu University, Tokyo, Japan.
authors.forename: Hironao
authors.initials: H
authors.lastname: Numabe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
keywords: 4q21q22 deletion; developmental delay; growth delay; polycystic kidney disease