title: 9q34.3 deletion syndrome in three unrelated children.
abstract: We described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.3-qter monosomy and 6p25-pter trisomy. Common features among the three we studied and the other six patients with 9q34.3 deletions in the literature include microcephaly, mental retardation (MR), hypotonic, and epileptic seizures. Their facial characteristics included flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted nostrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome.
authors.affiliation: Nishinomiya Municipal Wakaba-en, Nishinomiya, Japan.
authors.forename: Mie
authors.initials: M
authors.lastname: Iwakoshi
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Shunji
authors.initials: S
authors.lastname: Yamamori
authors.forename: Hiroko
authors.initials: H
authors.lastname: Fujita
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009006:Monosomy; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy