Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An unusual case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation who had mild speech delay and normal motor development is presented. A 3.5-year-old boy with complaints of speech delay, open mouth and drooling saliva was the child of a 33-year-old healthy mother and 35-year-old nonconsangineous father with unremarkable prenatal history. Beside delayed speech, hyperactive movements, flat nasal bridge, prominent ears, micrognathia, hypotonia, and overriding of left 3rd the on 2nd toe were present. Cytogenetic studies revealed de novo 45,XY del (18) t(18;21)-21 karyotype, which was confirmed by fluorescence in situ hybridization (FISH).
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PMID:An unusual case of monosomy 18p: minor malformations with speech delay. 1605 67

A rare case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation is presented. An 8-year-old gril with mental deficiency and growth deficiency was the child of a 45-year-old healthy mother and 50-year-old nonconsanguineous father with unremarkable prenatal history. She had a round face, flat nasal bridge, micrognathia and hypotonia. Cytogenetic studies revealed de novo 45,XX,del(18)t(18;21) karyotype, which was confirmed by fluorescence in situ hybridization (FISH).
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PMID:A rare case of monosomy 18p: translocation between chromosomes 18 and 21. 2184 17