Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.
نویسندگان
چکیده
A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.
منابع مشابه
A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.
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عنوان ژورنال:
- Journal of medical genetics
دوره 18 5 شماره
صفحات -
تاریخ انتشار 1981