Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality. Am J Med Genet 1987 Jan;26(1):189-94
Date
01/01/1987Pubmed ID
3812561DOI
10.1002/ajmg.1320260128Scopus ID
2-s2.0-0023232098 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
An abnormality of chromosome 16 in an eight year-old male was associated with a multiple congenital anomalies syndrome characterized by myopathy, cataracts, blepharophimosis, microcephaly, failure to grow, profound mental retardation, moderate sensorineural hearing loss, grand mal seizures, bilateral inguinal hernia, and thoracolumbar kyphoscoliosis. Magnetic resonance imaging of the head demonstrated absence of the corpus callosum and extensive loss of brain parenchyma in the occipital regions. Chromosome analysis from peripheral blood of the patient showed a recombinant chromosome 16 [46, XY, rec (16), dup (p13.1----p13.3) del (q22----q24)]. The mother had a pericentric inversion of chromosome 16 [46, XX, inv(16) (p13.1;q22)]. Independent recombinant DNA studies have shown that the breakpoints of these chromosomal rearrangements flank the alpha-globin gene cluster locus.
Author List
Ionasescu V, Patil S, Hart M, Rhead W, Smith WAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleAgenesis of Corpus Callosum
Cataract
Child
Chromosome Aberrations
Chromosomes, Human, Pair 16
Contracture
Humans
Intellectual Disability
Male
Microcephaly
Muscular Diseases
Syndrome
