Chromosome 8 recombinant syndrome. Recombinant 8 syndrome.
Incidence
Rare syndrome. Transmitted as an autosomal dominant trait. All thus far observed cases have been in patients of Hispanic origin in south-western United States. 6.2% risk of Rec(8) offspring by an inv(8) carrier.
Clinical Characteristics
Recombinant chromosome 8 is a syndrome characterized with developmental delay, minor facial anomalies, eye abnormalities, high frequency otitis media and hearing loss, congenital heart disease, and genitourinary anomalies. The Rec8 syndrome is characterized by typical facial appearance, cardiovascular and other major malformations, and moderate to severe mental retardation. The craniofacial features included hypertelorism and thin upper lip in all cases; anteverted nares, wide face, abnormal dentition, and abnormal hair whorl in more than 90% of cases; infraorbital creases, abnormally low-set ears, downturned mouth, low posterior hairline, and micrognathia in 80% or more of cases; and gingival hyperplasia, brachycephaly, midface hypoplasia, and thick lower lip in about 75% of cases. Tetralogy of Fallot constituted about 40% of the cardiovascular malformations and conotruncal defects about 55%.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Recombinant chromosome 8.