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Features of trisomy 18 and 18p‐syndromes in an infant with 46, XY, i(18q)
Author(s) -
Bass Harold N.,
Sparkes Robert S.,
Miller Alvin A.
Publication year - 1979
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.1399-0004.1979.tb00986.x
Subject(s) - trisomy , chromosome 18 , medicine , genetics , biology , chromosome , gene
An isochromosome for the long arm of chromosome number 18 ‐ 46, XY, i(18q) ‐ was found in an infant who had features of both trisomy 18 and 18p– syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker‐bottom feet. Those of 18p– syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely‐spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.