A further patient with Pai syndrome with autosomal dominant inheritance?
نویسندگان
چکیده
We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.
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We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The ...
متن کاملMedian cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46 , X , t ( X ; 16 ) ( q 28 ; ql 1 . 2 )
We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;qll.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 6 شماره
صفحات -
تاریخ انتشار 1994