[A cytogenetic study of the functions of the variable regions in human C heterochromatin. II. C heterochromatin in families with hereditary short stature].
The C heterochromatin in chromosomes 1, 9, 16, and Y was studied for 12 families of patients with inherited short stature. A comparison of the results of cytogenetic and genealogical analysis has revealed a correlation between the growth retardation in children and the short stature in parents, and the accumulation of the small C segment in chromosomes 1, 9, and 16 in their karyotypes. These data are entirely consistent with our results obtained for the families having children with gene syndromes (Russell-Silver, Dubowitz etc.) and obligate growth retardation. Obviously, there is a type of narrow height in man associated with the presence of a small amount of C heterochromatin. This appears to be an additional proof of a great importance of C heterochromatin in embryonal and postnatal development. Differential diagnostics of such a type of short stature is important for children endocrinology, since the hormonal growth-stimulated therapy does not have a desirable effect on these patients.
Podugol'nikov
O A
OA
Buraia
T I
TI
Solonichenko
V G
VG
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics / Q000648:ultrastructure; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics / Q000648:ultrastructure; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics / Q000648:ultrastructure; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006570:Heterochromatin / Q000235:genetics* / Q000648:ultrastructure; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D013577:Syndrome; D014998:Y Chromosome / Q000235:genetics / Q000648:ultrastructure
D006570:Heterochromatin