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Different clinical features in monozygotic twins: a case of 7q — syndrome
Author(s) -
Tsukamoto H.,
Inui K.,
Taniike M.,
Kamiyama K.,
Hori M.,
Sumi K.,
Okada S.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04438.x
Subject(s) - karyotype , buccal swab , monozygotic twin , biology , chromosome , phenotype , genetics , peripheral blood , x chromosome , microbiology and biotechnology , immunology , gene
We present male monozygotic twins who showed quite different clinical features. Blood chromosome analysis revealed 46, XY/46, XY, de1(7) (q32 → qter) mosaicism in both twins. However, cultured skin fibroblasts from the twins showed different karyotypes. Twin 1, with a normal phenotype, had normal chromosomes and was 46,XY. Twin 2, on the other hand, had the characteristic manifestations of 7q — syndrome and chromosomes of 46, XY, del(7) (q32 → qter). DNA fingerprint analysis of their peripheral blood samples revealed the same pattern. However, DNA fingerprint patterns of cultured skin fibroblasts and buccal mucosal cells were different when a 7q terminal marker, probe 83, was used. These identical twins with discordant phenotypes can be explained by the occurrence of twinning and simultaneous erroneous mitosis. In addition, there might be a vascular communication which probably resulted in blood exchange and chromosomal mosaicism of the lymphocytes of the monozygotic twins.