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A Patient with an Extra psu dic(15) Chromosome
Author(s) -
Sakiyama Takeshi,
Noguchi Yasuyuki,
Shimizu Hisashi,
Kitagawa Teruo,
Nakagome Yasuo
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb00376.x
Subject(s) - medicine , dicentric chromosome , karyotype , chromosome , trisomy , genetics , biology , gene
Before the advent of banding techniques, cases with an extra G‐group chromosome had been reported as non‐mongoloid trisomy G. It has recently been shown that in most cases the extra chromosome is a pseudo‐dicentric 15 consisting of a euchromatic segment bordered on both ends by 15p material. In this report, we describe a girl who has mental retardation (IQ 30), frequent intractable seizures, large ears, cafe‐au‐lait spots on her abdomen and a 47, XX, + psu dic(15) karyotype. The distamycin/DAPI technique was proven to be very useful in the identification of a structural rearrangement involving a chromosome 15.