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At least 541 records · Page 30Linked to original sources
PubMed1984

Subjective responses to alcohol in sons of alcoholics and control subjects.

We matched 23 nonalcoholic male drinkers who were aged 21 to 25 years and had alcoholic close relatives (FHP) with 23 control subjects with negative family histories (FHN) for demographic characteristics and drinking and smoking histories. The subjective feelings of intoxication for the 46 men were studied on three occasions using placebo, 0.75 mL/kg of ethanol, and 1.1 mL/kg of ethanol. The FHP subjects (at elevated risk for the development of alcoholism) reported less intense feelings of subjective intoxication after drinking, especially during the two hours following the peak blood alcohol concentration (BAC). Group differences were most marked with the 0.75-mL/kg dose. The two groups did not differ significantly on their BACs nor on the expectation of how they would feel under the influence of alcohol.

Adult↗
PubMed1996

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

We present two families with different distal long arm 5;10 translocations. In one family the propositus and his mother inherited the same derived chromosome 10 from the maternal grandfather who has a balanced t(5;10)(q35.3;q26.13). The phenotype of both the affected patients is milder and only partially overlaps with that of previous cases of distal 10q deletion. Other previously reported cases of transmitted imbalance are also remarkable for mild phenotype, occurrence of deletions rather than duplications and a strong bias toward maternal as opposed to paternal transmission. In the second family, the propositus inherited a derived chromosome 10 from his mother who carries a balanced (t(5;10)(q35.1;q26.3) translocation; his clinical manifestations are consistent with an emerging phenotype for distal 5q duplications.

Abnormalities, Multiple↗
PubMed1997

Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection.

A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies had the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der(1)t(1;4)(4qter-->4q33::1p36.13-->1qter),der( 4)t(1;4)inv(4)(4pter-->4q31.3::1p36.33-->1p36.13::4q33 -->4q31.3::1p36.33-->1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.

Abnormalities, Multiple↗