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Partial trisomy 14q—and pseudoxanthoma elasticum
Author(s) -
Muldal S.,
Enoch B. A.,
Ahmed A.,
Harris R.
Publication year - 1973
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.1399-0004.1973.tb01936.x
Subject(s) - autosome , karyotype , trisomy , genetics , macrocytosis , pseudoxanthoma elasticum , short stature , x chromosome , g banding , biology , chromosome , partial trisomy , pathology , medicine , endocrinology , gene , vitamin b12
An adolescent mentally retarded child with short stature is described. Clinical and histological features of pseudoxanthoma elasticum (PXE) were present in the skin. Karyotype examination revealed an extra autosome roughly comparable in size to a G group chromosome. Detailed fluorescent and Giemsa banding analysis identified the extra chromosome as a 14q‐. It is probable that many other reported cases of non mongoloid trisomy involving G‐sized autosomes are similar to this case and are associated with partial trisomy of D group chromosomes. Viability and severity of abnormalities will depend on how much euchromatin has been deleted.