1.
Am J Med Genet
; 16(4): 641-4, 1983 Dec.
Article
in English
| MEDLINE
| ID: mdl-6660254
Subject(s)
Paternity , Prenatal Diagnosis , Adult , Chromosome Banding , Female , HLA Antigens/genetics , Humans , Male , Pregnancy
2.
Am J Ophthalmol
; 84(4): 477-86, 1977 Oct.
Article
in English
| MEDLINE
| ID: mdl-410302
ABSTRACT
Using multiple chromosomal banding techniques, we studied a child with typical cat-eye syndrome and ocular retraction syndrome. Although the mother was was chromosomally normal, other maternal relatives showed features of the cat-eye syndrome, suggesting the basic abnormality is heritable. The abnormal chromosome in our case was most likely the product of reciprocal translocation where short arm plus centromeric chromatin from two separate acrocentric chromosomes fused together. The chromosomes involved were probably No. 22 and either Nos. 13 or 14. The basic underlying defect in cat-eye syndrome may be a heritable fragile site or some other predisposition leading to complex chromosomal interchange.
Subject(s)
Chromosome Aberrations/epidemiology , Coloboma/complications , Eye Abnormalities , Iris/abnormalities , Adult , Anus, Imperforate/complications , Child , Child, Preschool , Chromosome Disorders , Chromosomes, Human, 13-15 , Chromosomes, Human, 21-22 and Y , Female , Humans , Infant , Infant, Newborn , Karyotyping , Male , Pedigree , Pregnancy , Syndrome
3.
Folia Biol (Krakow)
; 19(1): 73-8, 1971.
Article
in English
| MEDLINE
| ID: mdl-5577505
4.
Lancet
; 1(7606): 1119-22, 1969 Jun 07.
Article
in English
| MEDLINE
| ID: mdl-4181601
Subject(s)
Lymphocytes , Maternal-Fetal Exchange , Sex Chromosomes , Sex Determination Analysis , Chromosome Aberrations/diagnosis , Chromosome Disorders , Female , Fetus/immunology , Gestational Age , Humans , Karyotyping , Male , Parity , Pregnancy
5.
Folia Biol (Krakow)
; 16(4): 323-7, 1968.
Article
in English
| MEDLINE
| ID: mdl-5709816
Subject(s)
Spermatozoa/growth & development , Testis/transplantation , Animals , Cricetinae , Male , Transplantation, Homologous
6.
Folia Biol (Krakow)
; 16(3): 239-46, 1968.
Article
in English
| MEDLINE
| ID: mdl-5750406
Subject(s)
Choriocarcinoma/blood , Chromosomes , Female , Humans , Karyotyping , Methods , Mitosis , Pregnancy
7.
Folia Biol (Krakow)
; 15(3): 251-64, 1967.
Article
in English
| MEDLINE
| ID: mdl-6062359
8.
Folia Biol (Krakow)
; 15(1): 17-34, 1967.
Article
in English
| MEDLINE
| ID: mdl-6074732