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Biomedical subjects

P Dziuba

Publications and source records attributed to P Dziuba.

At least 19 recordsLinked to original sources

The trisomy 18 syndrome with an E/G translocation.

An infant with a typical Edwards syndrome and a modal chromosome number of 46 is reported. In all cells analyzed one chromosome G was missing and an additional chromosome similar to a pair No. 16 was present. The phenotype of the child indicates that the extra element is a translocation between G and 18 chromosomes as in one case described previously.

Abnormalities, Multiple

A female infant with monosomy 21.

A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal.

Abnormalities, Multiple

[D trisomy].

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Abnormalities, Multiple