title: Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.
abstract: We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.
authors.affiliation: Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh, 15224.
authors.forename: A E
authors.initials: AE
authors.lastname: Lin
authors.forename: K L
authors.initials: KL
authors.lastname: Garver
authors.forename: G
authors.initials: G
authors.lastname: Diggans
authors.forename: M
authors.initials: M
authors.lastname: Clemens
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: M W
authors.initials: MW
authors.lastname: Steele
authors.forename: M C
authors.initials: MC
authors.lastname: Jones
authors.forename: J
authors.initials: J
authors.lastname: Israel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014034:Toes / Q000002:abnormalities