Syndrome of facial, oral, and digital anomalies due to 7q21.2?q22.1 duplication

Abstract

We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation. To the best of our knowledge, this is the first example of interstitial trisomy 7q21.2-->q22.1 reported. The syndrome is characterized by the presence of facial, oral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant; 2) lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with fetal pads, broad thumbs, and halluces.

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

“…Partial trisomy/duplication of chromosome 7q is associated with a characteristic syndrome of frontal bossing, retrognathia, small jaw, low-set ears, dysplastic ears, deep-set and prominent eyes, strabismus, down-curved upper lip, small mouth, short hands, stiffness of fingers and other joints, joint laxity, scoliosis, reduced muscle tone, hydrocephalus, growth retardation, strabismus, coloboma of iris, drooping upper eyelid, widely-spaced eyes, long eyelashes and short space between eyelids [1][2][3][4][5][6][7][8].…”

“…High resolution chromosomal analysis of the proband showed 46,XY,dup 7(q21.2-q32). Twelve patients with duplication/trisomy of 7q have been reported [1][2][3][4][5][6][7][8]. A summary of clinical findings of patients with partial duplication of 7q is given in Table 1 Our patient confirms that partial trisomy/duplication of 7q is associated with macrocephaly, frontal bossing, failure to thrive, psychomotor delay and malformed ears.…”

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

“…An exceptionally large CNV was detected in an ASD female that harbored an 18 Mb duplication on chromosome 7 (7q21.11-21.3), which includes several known neurodevelopmental genes ( PCLO , SEMA3A , SEMA3C , SEMA3D and SEMA3E ). A duplication of this chromosomal region has been associated with intellectual disability and multiple congenital anomalies [58]. Another female has a 10 Mb deletion on chromosome 11 (11q24.2-q25).…”

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

“…Members of each family were evaluated for linkage to chromosomal regions known to contain genes important in enamel development at previously described [24,32-38]. Table 1 shows studied markers for linkage to chromosome regions known to contain genes important in enamel development.…”