Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A Y;12 translocation, resulting in extra Yq material and partial monosomy 12p, was found in a 7 1/2 year old boy. He showed growth and mental retardation and several of the congenital anomalies seen in the 12p deletion syndrome. LDHB activity, the gene for which is located at 12p12, was normal in serum, in accordance with the suspected 12p13 deletion in the patient.
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PMID:Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome. 400 44

A complex de novo translocation was found in leukocytes and fibroblasts from a boy with mental retardation and minor abnormalities. The 45,XY chromosome constitution found in all cells was initially interpreted from routine G- and Q-banding techniques as a balanced translocation of part of the short arm of 12 to the short arm of 15 and of the long arm of 21 to the short arm of 12. With additional staining techniques and use of prometaphase chromosome preparations, it was determined that the distal portion of band 12.3 of the short arm of chromosome 12 was missing from the 12/15 and the 12/21 translocation chromosomes. This interpretation was confirmed by a decreased concentration of the LDH-B subunit in lactate dehydrogenase isozymes of the patient's fibroblasts, consistent with his being hemizygous for the LDHB locus.
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PMID:Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB. 616 67

A 33p+ chromosome in the lymphocytes of an infant with mental deficiency and congenital malformations was found to be a de novo translocation that could not be characterized by banding methods. The demonstration of a dosage effect for four enzymes--TPI, GAPHD, LDHB, and ENO2--in the infant's erythrocytes was consistent with trisomy 12p. The observation demonstrates the usefulness of information provided by the human gene map in the characterization of small chromosome imbalances which defy accurate identification by available banding techniques.
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PMID:Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2. 696 83