title: Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2.
abstract: We present clinical outcome, through several years of follow-up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of chromosome 2, within a region on which clinical reports are infrequent. Our patient 1 was found to have del(2)(q22.3q23.3); patients 2 and 3, del(2)(q23.3q24.2); and patient 4, del(2) (q24.2q31). By comparison of our cases with each other and with those previously published with comparable interstitial deletion, we attempted to identify characteristic clinical findings. Short neck with excessive cervical skin was seen with monosomy of chromosome 2 bands q22.3-q23.3, while hypertrichosis and a peculiar high pitched cry were seen with monosomy of chromosome 2 bands q23.3-q24.2. As suggested by Moller et al. [1984: Hum Genet 68:77-86], a cleft between the first and second toes was seen with monosomy of chromosome 2 bands q24.2-q31. In addition, seizure disorder was present in patients 1 and 4 (with the more proximal and distal deletions, respectively).
authors.affiliation: Oregon Health Sciences University, Portland 97201-2998, USA.
authors.forename: K D
authors.initials: KD
authors.lastname: McMilin
authors.forename: J A
authors.initials: JA
authors.lastname: Reiss
authors.forename: M G
authors.initials: MG
authors.lastname: Brown
authors.forename: M H
authors.initials: MH
authors.lastname: Black
authors.forename: D A
authors.initials: DA
authors.lastname: Buckmaster
authors.forename: C T
authors.initials: CT
authors.lastname: Durum
authors.forename: K A
authors.initials: KA
authors.lastname: Gunter
authors.forename: H J
authors.initials: HJ
authors.lastname: Lawce
authors.forename: T L
authors.initials: TL
authors.lastname: Berry
authors.forename: O A
authors.initials: OA
authors.lastname: Lamb
authors.forename: C L
authors.initials: CL
authors.lastname: Olson
authors.forename: F F
authors.initials: FF
authors.lastname: Weeks
authors.forename: M J
authors.initials: MJ
authors.lastname: Yoshitomi
authors.forename: P B
authors.initials: PB
authors.lastname: Jacky
authors.forename: S B
authors.initials: SB
authors.lastname: Olson
authors.forename: R E
authors.initials: RE
authors.lastname: Magenis
mesh_terms: D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012640:Seizures / Q000235:genetics