| Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13 |
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| Maternal and paternal origin of extra chromosome in trisomy 21 |
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| Genetics of the +p9 syndrome |
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| A test for heterozygocity of 21-hydroxylase deficiency |
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| Comparative studies on the specificity of anticlastogenic action in human lymphocytes in culture |
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| Association of duffy blood groups with the suckle cell trait |
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| Epidermolysis bullosa dystrophica dominans (Pasini)?A primary structural defect of the anchoring fibrils |
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| Conduite antisociale et longueur du chromosome Y |
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| Esterase D polymorphism: Description of the ?new? allele EsD4 |
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| A note on suxamethonium sensitivity and serum cholinesterase variants |
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| Short arm deletion of an X chromosome, 46,XXp- |
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| Does full monosomy 21 exist? |
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| Announcement |
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| Origin of the extra chromosome No. 21 in Down's syndrome |
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| Distribution of alpha-1-antitrypsin phenotypes in two Dutch population groups |
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| Partial trisomy 2q and familial translocation t(2;12)(q31;q24) |
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| Inherited congenital normofunctional testicular hyperplasia and mental deficiency |
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| Pyruvate kinase isozymes in man |
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| Isochromosome X in man: Different DNA replication patterns in the long arms |
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| Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan |
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| Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome |
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| Keratosis palmo-plantaris cum degeneratione granulosa |
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| 21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes |
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| Gene dosage effect in human triploid fibroblasts |
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| Chromosomes in old age: A six year longitudinal study |
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| Partial trisomy 15q1 |
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| Hereditary retinoblastoma: Penetrance, expressivity and age of onset |
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| A hormone-like action of H-Y antigen and gonadal development of XY/XX mosaic males and hermaphrodites |
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| The human leukocyte test system |
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| Chromosomal constitution of nucleolus-associated chromatin in man |
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| Partial trisomy 11,46,XX,-3,-20,+der3,+der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20 |
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| First International Symposium on HLA and Disease |
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| 5-Methylcytosine in heterochromatic regions of chromosomes in Bovidae |
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| Cytogenetic investigations in a new case of Bloom's syndrome |
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| Four familial translocations ascertained through spontaneous abortions |
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| Aspermia, associated with a presumably balanced X/autosomal translocation |
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| Satellite-association frequency and rDNA content of a double-satellited chromosome |
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| Morphologic variability of human chromosomes: Polymorphism of constitutive heterochromatin |
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| Banding of human chromosomes with basic fuchsin |
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| GD (-) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase |
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| Confirmation of linkage between the loci for HL-A and glyoxalase I |
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| Tricho-rhino-phalangeal syndrome |
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| Ein Fall von testicul�rer Feminisierung mit dem Karyotyp 47,XXY |
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| Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote |
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| Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p |
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| Polymorphism of ?1-antitrypsin in a Portuguese population |
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| The relation of sex, age, smoking status, birth rank and parental ages to pseudocholinesterase activity and phenotypes in a sample of Australian Caucasian adults |
✓ |
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| Cell selection in vivo in normal/aneuploid chromosome abnormalities |
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| Trisomy 9p resulting from maternal 9/21 translocation |
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| The role of trypsin in the pre-treatment of chromosomes for giemsa banding |
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| Pyruvate kinase isozymes in man |
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| Possible genetic consequences of relaxed selection against common disorders with complex inheritance |
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| Is haemoglobin G? Philadelphia linked to ?-thalassaemia? |
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| Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency |
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| Zur Populationsgenetik der Phenylketonurie in der DDR |
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| DNA replication patterns of the early S phase from amniotic fluid cells as revealed by a Giemsa staining technique |
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| Frequency of chromosomal fluorescence polymorphism in normal persons and in clinical patients with diagnosed chromosome aberrations |
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| Chromosome measurements on an XXp+ male |
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| Evidenz f�r eine Mosaikstruktur der Netzhaut bei Konduktorinnen f�r Dichromasie |
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| Paracentric inversion of a human chromosome 7 |
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| Cytochemical study of pseudoisocyanine stained human chromosomes |
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| Ss blood Group Associated PAS-staining polymorphism of glycoprotein 3 from human erythrocyte membranes |
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| Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome |
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| Distribution of spontaneous chromosome breaks in human chromosomes |
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| Increased sister chromatid exchange events in the human late replicating X |
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| Exomphalos and trisomy 18 syndrome |
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| Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2) (q34q36) |
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| Pathomorphological changes in an early spontaneous abortus with triploidy (69,XXX) |
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| A new translocation in chronic myelogenous leukemia |
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| Studies on the altered electrophoretic type of the factor VIII related antigen |
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| Length of human C-bands in relation to the degree of chromosome condensation |
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| Trisomy 6 associated with aplastic anemia |
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| A cytogenetic study of human spontaneous abortions using banding techniques |
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| Hereditary hemolytic anemia with erythrocyte pyrimidine 5?-nucleotidase deficiency in Spain |
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| Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells |
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| A new genetic variant of galactose-1-phosphate uridyl transferase |
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| Laser UV microirradiation of interphase nuclei and post-treatment with caffeine |
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| Chromosome anomalies of infants dying during the perinatal period and premature newborn |
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| Segmentation of human chromosomes induced by 5-ACR (5-azacytidine) |
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| Studies on frequency of Y chromatin in human sperm |
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| Hand dermatoglyphics in trisomy 4p |
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| Mitosis of maternal lymphocytes in the presence of fetal cells: Possible implication in prenatal diagnosis from fetal blood samples |
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| ?Jumping? satellites in three generations: A warning for paternity tests and prenatal diagnosis |
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| Localization of the Bf locus within the HLA region |
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| Glutamic pyruvic transaminase and esterase D types in the Asian-Pacific area |
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| Hautleistenverlauf bei Homo- und Heterozygotie f�r Morbus Wilson (hepatolentikul�re Degeneration) |
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| G6PD lozere and trinacria-like |
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|
| The red cell 3 phosphoglycerate kinase polymorphism |
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| Trisomy 9 associated with an enlarged 9qh segment in a liveborn |
|
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| Chromosomal and clinical findings in 110 females with Turner syndrome |
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| Esterase D polymorphism in Chinese and Japanese |
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| Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects |
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| Routine G-banding in prenatal diagnosis of chromosomal disorders |
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| Confirmation of the human thymidine kinase locus, 17q21 ? 17qter, by means of a man-mouse somatic cell hybrid, D98/AH-2 X LMTK?Cl-1D |
|
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|
| Possible linkage of HL-A and GLO |
|
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|
| Chromosomal damage in epileptics on monotherapy with carbamazepine and diphenylhydantoin |
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|
|
| The distribution of esterase D variants in different ethnic groups |
|
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|
✓ |
|
ethnic groups |
| Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome |
|
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| Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome |
|
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| Dosage effect of SOD-A gene in 21-trisomic cells |
|
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|
| Cytogenetic and cell-surface marker studies in two non-Hodgkin's lymphomata of T-cell origin |
|
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| A boy with 47,X,del(X)(p11?q13::q21?q24),del(Y)(q11) |
|
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| A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique |
|
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| Cytogenetic survey of a hospital for the mentally retarded |
|
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| Hypoxanthine-guanine phosphoribosyl transferase deficiency |
|
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|
|
| Genetic loci of components of the classical and alternate pathway of complement activation: A new dimension of the immunogenetic linkage group (HLA) on chromosome 6 in man |
|
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|
| Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm |
|
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| Partial trisomy 9q- chromosomal syndrome |
|
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| Stability of X chromosome differentiation in mouse embryos |
|
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| Mental retardation and congenital malformations associated with a ring chromosome 9 |
|
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| Localization of the human GLO gene locus |
|
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|
| Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine ? threonine at position 75 (E 19) of the ? chain |
|
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|
|
| C and Q bands in long arm of Y chromosomes; are they identical? |
|
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|
| Constitutional chromosomal breakage |
|
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|
| Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man |
|
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|
|
| Effects of inhibitors of DNA, RNA and protein synthesis on frequencies and types of premature chromosome condensation from X-ray induced micronuclei |
|
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|
|
| Partial trisomy 20p derived from a t(18;20) translocation |
|
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|
|
| Expansion and contraction of hypomelanotic areas in human piebaldism |
|
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|
| Comparative investigations on cytogenetic effects of X-irradiation on the germinal epithelium of male mice and Chinese hamsters |
|
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|
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|
|
| Quantitative and qualitative study of acrocentric associations in 109 normal subjects |
|
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|
|
| Staining of the spindle apparatus in human lymphocyte and fibroblast cultures |
|
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|
|
| Production of C and T bands in human mitotic chromosomes after heat treatment |
|
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|
|
| A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9 |
|
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|
|
| Trisomy 4p due to a paternal t(4p-;16p+) translocation |
|
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|
|
| Fusion of two apparently intact human X chromosomes |
|
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|
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| Fabry's disease: Heterozygote detection by hair root analysis |
|
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|
| An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes |
|
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|
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|
|
| Possible intrachromosomal duplication in a case of trisomy 9p |
|
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|
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|
|
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|
|
| The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism |
|
|
|
|
|
|
|
|
|
| Isolation of mammalian cell mutants deficient in glucose 6-phosphate dehydrogenase by means of a replica-plating technique |
|
|
|
|
|
|
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|
|
| The human leukocyte test system |
|
|
|
|
|
|
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|
|
| Evidence for an association between AB0 blood group and goitre |
|
|
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|
|
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|
|
| Prenatal diagnosis of congenital anomalies in an intrauterine growth retarded fetus |
|
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|
|
| Formal genetics of Fanconi's anemia |
|
|
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|
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|
|
| A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation |
|
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|
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|
|
| Normal meiosis in two 47,XYY men |
|
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|
|
|
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|
|
| Familial occurrence of gonadal tumors in XY females with breast development |
|
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|
|
| Chromosome preparations from microplate cultures of man, dog, rat, and mouse |
|
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|
|
| Translocation de l'Y sur un autosome et hypogonadisme |
|
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|
|
| Human complementary component C?3 |
|
|
|
|
|
|
|
|
|
| A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21) |
|
|
|
|
|
|
|
|
|
| The human leukocyte test system |
|
|
|
|
|
|
|
|
|
| Evidence that chromosome band 22q12 is concerned with cell proliferation in chronic myeloid leukaemia |
|
|
|
|
|
|
|
|
|
| Heterogeneity of Dyggve-Melchior-Clausen dwarfism |
|
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|
|
| Sunshine and the geographical distribution of the alleles of the Gc system of plasma proteins |
|
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|
|
| HMC syndrome in identical twins |
|
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|
|
| A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies ?A new syndrome |
|
|
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|
|
| Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy |
|
|
|
|
|
|
|
|
|
| Tertiary trisomy, 47,XX,+14q-, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24) |
|
|
|
|
|
|
|
|
|
| Spermatogenesis in an infertile XYY man |
|
|
|
|
|
|
|
|
|
| Familial C/D translocation t(9;13)(9p23;13q21) in a male associated with recurrent abortion |
|
|
|
|
|
|
|
|
|
| Follow-up till age 3?4 of unselected children with sex chromosome abnormalities |
|
|
|
|
|
|
|
|
|
| Fine structure of 33 258 H-treated chromosomes |
|
|
|
|
|
|
|
|
|
| Bf polymorphism: Study of a new variant (F 0.55) |
|
|
|
|
|
|
|
|
|
| Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods |
|
|
|
|
|
|
|
|
|
| Polymorphism of properdin factor B in South African Negroid, Indian and Colored populations |
|
|
|
|
|
|
✓ |
|
Negroid, Indian and Colored populations |
| Center for barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter? p22::p22?qter) |
|
|
|
|
|
|
|
|
|
| Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund |
|
|
|
|
|
|
|
|
|
| 47,+(9q-) in unrelated three children with plasma growth hormon deficiency |
|
|
|
|
|
|
|
|
|
| Banding pattern observed in human chromosomes by the modified BSG technique |
|
|
|
|
|
|
|
|
|
| CT banding of human chromosomes |
|
|
|
|
|
|
|
|
|
| Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique |
|
|
|
|
|
|
|
|
|
| A female infant with monosomy 21 |
|
|
|
|
|
|
|
|
|
| Structural variability of human chromosome 9 in relation to its evolution |
|
|
|
|
|
|
|
|
|
| Q-banding of human chromosomes after BUdR and BCdR treatment |
|
|
|
|
|
|
|
|
|
| Serum immunoglobulin M, G, and A concentration levels in Turner's syndrome compared with normal women and men |
|
|
|
|
|
|
|
|
|
| Biochemical characteristics of collagen produced by long term cultivated amniotic fluid cells |
|
|
|
|
|
|
|
|
|
| Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids |
|
|
|
|
|
|
|
|
|
| The trisomy 18 syndrome with an E/G translocation |
|
|
|
|
|
|
|
|
|
| 9p trisomy identified by Giemsa-11 |
|
|
|
|
|
|
|
|
|
| Partial trisomy 4q syndrome: Case report and review |
|
|
|
|
|
|
|
|
|
| Nucleolus organizer and satellite association in a variant D-group chromosome |
|
|
|
|
|
|
|
|
|
| A new, high frequency variant of α1-antitrypsin |
|
|
|
|
|
|
|
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| Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34 |
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| Persistence of high intestinal lactase activity (lactose tolerance) in Afghanistan |
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| ESD polymorphism in Norway |
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| Eine weitere Chromosomenanalyse bei k�nstlichen Aborten |
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| Leukocyte peroxidase in Spielmeyer-Vogt's disease |
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| A case of trisomy for the short arm of chromosome No. 9(+9(p)) |
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| Down's syndrome with XYY additional aneuploidy |
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| A case of true hermaphroditism with 45X/46XY mosaicism |
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| Ring Y chromosome: 45,X/46,X,r(Y) chromosome mosaicism in a phenotypically normal male with azoospermia |
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| Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases |
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| Indophenol-oxidase in patients with Down's syndrome due to simple trisomy and to translocation 21/22 |
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| Assignment of a gene for human mitochondrial isocitrate dehydrogenase (ICD-M, EC 1. 1. 1. 41) to chromosome 15 |
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| Biochemical characterization of the human carbonic anhydrase variant CA ih Hiroshima |
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| Late-replicating ring X-chromosomes identified by r-banding after BrdU pulse |
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| Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population |
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| Premature chromosome condensation in irradiated man |
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| Familial 13p+ chromosome with mental retardation and dysmorphic features in two children |
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| Deletion of the short arms of chromosome 20 |
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| A 46, XY, del(18)(pter?pl 100:) Cebocephalic child from a 46, XX, t(12;18)(18pter?18pl 100 :: 12qter?12pter) normal parent |
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| Maternal cell contamination |
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| Paracentric inversion in man |
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| Investigations on the frequency of chromosome aberrations in bone marrow cells of Chinese hamsters after simultaneous application of caffeine and cyclophosphamide |
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| Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family |
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| The occurrence of Hb E Saskatoon in Scotland |
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| Ring chromosome 15 in child with a minor dysmorphism of phenotype |
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| Generalized dermal perifollicular fibromas with polyps of the colon |
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| Standardization in human cytogenetics |
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| On the origin of the supernumerary chromosome in autosomal trisomies ? with special reference to Down's syndrome |
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| rDNA and acrocentric chromosomes in man |
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| Regional mapping of human chromosome 10: Assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to 10q24 � qter |
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| Elimination of spontaneous and chemically induced chromosome aberrations in mice during early embryogenesis |
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| The cytogenetics of 90 patients with idiopathic mental retardation/malformation syndromes and of 90 normal subjects |
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| Partial trisomy 4q due to familial 2/4 translocation |
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| The red blood cell Esterase D polymorphism in Europe and Asia |
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| CT banding of human chromosomes |
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| Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD kirovograd and G6PD zhitomir |
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✓ |
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Ashkenazi |
| Parental origin of a ring 13 chromosome in a female with multiple anomalies |
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| Brachydactylia with symphalangism, probably autosomal recessive |
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