Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new case of monosomy 10p without associated chromosomal abnormality is reported. This observation, compared with three others from the literature, shows the following common symptoms: microcephaly, antimongoloid slant of the palpebral fissures, low-set ears, prominent anthelix, congenital heart disease, abnormalities of the limbs. Cranial tomography demonstrates a midline developmental anomaly of the brain (cavum vergae associated with cavum septi pellucidi).
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PMID:[Partial monosomy 10p in a case investigated with tomodensitometry (author's transl)]. 697 23