Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).
An 18-year-old girl displayed left anophthalmia and right severe microphthalmia, mild dysmorphic features of facies and distal limbs, a right preauricular pit, and moderate mental retardation. She was trisomic for the distal part of the short arm of chromosome 4 and the proximal segment of chromosome 22, due to unbalanced 3:1 segregation of a maternal 4;22-translocation. Anophthalmia is a rare finding in chromosome aberrations in general, and particularly in patients not featuring other severe malformations and severe to profound mental retardation.
Schinzel
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Department of Medical Genetics, University of Zurich, Switzerland.
D'Apuzzo
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D000328:Adult; D000853:Anophthalmos / Q000150:complications / Q000235:genetics*; D002648:Child; D002892:Chromosomes, Human, Pair 22; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008850:Microphthalmos / Q000150:complications / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy