A New Chromosome Breakage Syndrome

Year 1972, Volume: 25 Issue: 6 , 1396 - 1401 , 31.12.1972

B. Sıtkı Şaylı

https://izlik.org/JA96FG73AT

Abstract

We present in this paper a family with classical Huntingtons chorea in two members of which, proband and her asymptomatic son, choromozom analyses of peripheral blood cells reveals a high percentages of choromatide breaks (9,6 - 3,3 percent, respectively) and a high proportion of hypodiploid plates. Both findinges have be considered of some significance.

Keywords

Genetic , Chromosome , breakage

Ethical Statement

-

Supporting Institution

Ankara University Faculty of Medicine, Department of Genetics and Clinic Of Psychiatry

Project Number

-

Thanks

-

Yeni Bir Kromozom Kırığı Sendromu

https://izlik.org/JA96FG73AT

Abstract

Klasik Huntington Koreli hanım ve normal görünümlü oğlunun periferik kanlarından hazırlanan metafaz plâklarının incelenmesinde normalde rastladığımızın üstünde (annede 9.6, oğulda % 4,3) kromatid kırıklarına ve yüksek oranda hypoploid plâklara rastlanmıştır. Bu bulgular bir kırık sendromu karşısında kaldığımız şeklinde yorumlanmıştır.

Keywords

Genetik , Kromozom , Kırık

Ethical Statement

-

Supporting Institution

Ankara Üniversitesi Tıp Fakültesi Genetik Kürsüsü ve Psikiyatri Kliniği

Project Number

-

Thanks

-

References

• 1- BARBEAU,. A. Parant ascent in the juvenile form of Huntington's chorea LANCET 2: 937, (1970).
• 2- BLOOM, D. The syndrome of congenital telegiectatic erytema and stunted growth J. PEDİAT. 68 : 103, (1966).
• 3- DOSİK, H. ve ark. Leukemia in Fanconi's anemia : Cytogenetic and tumor virus suspectibility studies. BLOOD 36 : 341, (1970).
• 4- GERMAN. J. Chromosomal breakage in a rare and probably genetically determined syndrome of man. SCIENCE 148 : 506, (1965).
• 5- HECHT, F. ve ark. Chromosome anomalies 1 : 848, (1967), LANCET
• 6- JACOBS, P. A. ve ark. Distribution of human chromosome contents in relation to age. NATURE (Lond.) 191 : 1178, (1961).
• 7- Age and chromosomes. NATURE (Lond.) 21 : 823, (1966).
• 8- JONES. M. B. and PHİLLİPS, C. R. Affected parent and age of onset in Huntington's chorea. J. MED. GEN. 7 : 20, (1970).
• 9- KOBİERSKİ, W. Cytogenetic analyse in elderly women. POL. TYGİLEK 25/35, 1313, (1970).
• 10- LISKER AND COBO. Chromosome Breakage in ataxia telengiectasia LANCET 1/7647, 618, (1970).
• 11- ŞAYLI, B. S. Teorik ve klinik sitogenetik. İkinci baskl, Ank. Üniv. Basım evi, 1972, Ankara