title: Chromosome deletions in 13q33-34: report of four patients and review of the literature.
abstract: Deletions of chromosome bands 13q33-34 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male patients frequently also have genital malformations. We report on four patients with three overlapping deletions of 13q33-34 that have been characterized by tiling-path array-CGH. Patient 1 had mental retardation and microcephaly with an interstitial 4.7 Mb deletion and a translocation t(12;13)(q13.3;q32.3). His mother (Patient 2), who also had mental retardation and microcephaly, carried the identical chromosome aberration. Patient 3 was a girl with a de novo insertion ins(7;13)(p15.1;q22q31) and interstitial 4.5 Mb deletion in 13q33-34. She had mental retardation and microcephaly. Patient 4 was a newborn boy with severe genital malformation (penoscrotal transposition and hypospadias) and microcephaly. He had a de novo ring chromosome 13 lacking the terminal 9.3 Mb of 13q. Karyotype-phenotype comparisons of these and eight previously published del13q33-34 patients suggest EFNB2 as a candidate gene for genital malformations in males. Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly.
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Joanna
authors.initials: J
authors.lastname: Walczak-Sztulpa
authors.forename: Marzena
authors.initials: M
authors.lastname: Wisniewska
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bielenska
authors.forename: Maja
authors.initials: M
authors.lastname: Linné
authors.forename: Christina
authors.initials: C
authors.lastname: Kelbova
authors.forename: Britta
authors.initials: B
authors.lastname: Belitz
authors.forename: Lutz
authors.initials: L
authors.lastname: Pfeiffer
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Fikret
authors.initials: F
authors.lastname: Erdogan
authors.forename: Andreas W
authors.initials: AW
authors.lastname: Kuss
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics