[Trisomy for distal segments of the long arm of chromosome 1].
Clinical genetic analysis of distal trisomies 1q, based on the study of a t(1; 6) (q42.1; p24) family and the literature data, was performed. It was demonstrated that phenotypical manifestations of the trisomy are formed by nonspecific anomalies, due to imbalance as such, and by rather specific anomalies caused by triplication of a "critical segment". 1q42-1qter appeared to be such a segment for distal trisomy 1q.
Lur'e
I V
IV
Institute of Medical Genetics, Academy of Medical Sciences of the USSR, Minsk.
Kodunov
L A
LA
Veropotvelian
N P
NP
Rumiantseva
N V
NV
Zaletaev
D V
DV
Belik
M G
MG
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy
Trisomii po distal'nym segmentam dlinnogo plecha khromosomy 1.