Premium
Camptomelic dwarfism associated with XY‐gonadal dysgenesis and chromosome anomalies
Author(s) -
Hoefnagel D.,
WursterHill D. H.,
Dupree W. B.,
Benirschke K.,
Fuld G. L.
Publication year - 1978
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.1399-0004.1978.tb01204.x
Subject(s) - gonadal dysgenesis , dwarfism , dysgenesis , endocrinology , biology , medicine , karyotype , chromosome , genetics , sex reversal , gene
We have studied two female newborns with camptomelic dwarfism, XY‐gonadal dysgenesis and chromosome anomalies. The preponderance of “females” among the hitherto reported cases of this allegedly autosomal recessive form of lethal dwarfism may be due to an increased incidence of an associated XY‐gonadal dysgenesis.