TY - JOUR
T1 - Tandem duplication of proximal 22q
T2 - A cause of cat-eye syndrome
AU - Reiss, J. A.
AU - Weleber, R. G.
AU - Brown, M. G.
AU - Bangs, C. D.
AU - Lovrien, E. W.
AU - Magenis, R. E.
PY - 1985/4/4
Y1 - 1985/4/4
N2 - A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1→11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. Blood marker results and the levels of galactosidase-2, galactosidase-B and arylsulfatase-A, which are known to be coded on 22q, are normal.
AB - A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1→11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. Blood marker results and the levels of galactosidase-2, galactosidase-B and arylsulfatase-A, which are known to be coded on 22q, are normal.
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U2 - 10.1002/ajmg.1320200120
DO - 10.1002/ajmg.1320200120
M3 - Article
C2 - 3970068
AN - SCOPUS:0021996414
SN - 1552-4825
VL - 20
SP - 165
EP - 171
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -