We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22, Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showed no evidence of SRY, We conclude that there are genes on chromosome 22 that are involved in sex determination. Am, J. Med, Genet. 85:2-4, 1999, (C) 1999 Wiley-Liss, Inc.
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Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Univ Penn, Div Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Forbes, Brian J.
McDonald-McGinn, Donna M.
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Childrens Hosp Philadelphia, Human Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
McDonald-McGinn, Donna M.
Wootton, Georgia
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Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Univ Penn, Div Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Wootton, Georgia
Dawson, Lindsay
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Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Univ Penn, Div Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Dawson, Lindsay
Zackai, Elaine
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Childrens Hosp Philadelphia, Human Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Zackai, Elaine
Binenbaum, Gil
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Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
Univ Penn, Div Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA