ISSN:
1435-232X
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary Clinicopathological and cytogenetic findings in a female infant with 46,XX,i(18q) were reported. She had mixed stigmata of both trisomy 18 and monosomy 18p. Most clinical and pathological findings in this case were compatible with trisomy 18, but several findings such as round flat face, flat nasal bridge, large ears, short webbed neck, low posterior hair line and costovertebral anomalies were compatible with monosomy 18p. Neuropathological study including Golgi study showed minimal dysmorphic abnormalities as seen in trisomy 18.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01876472
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