| A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance |
|
|
|
|
|
|
✓ |
✓ |
Italian origin |
| A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome* |
|
|
|
|
|
|
|
|
|
| Frequency of the carrier state for X‐linked chronic granulomatous disease among females with lupus erythematosus |
|
|
|
|
|
|
|
|
|
| Dominantly inherited ptosis, strabismus and ectopic pupils |
|
|
|
|
|
|
|
|
|
| Microphotometry of banded human chromosomes III |
|
|
|
|
|
|
|
|
|
| The myogenic scapulo‐peroneal syndrome. Muscular dystrophy in the K. kindred: Clinical study and genetics |
|
|
|
|
|
|
|
|
|
| A linkage study of the Marfan syndrome1 |
|
|
|
|
|
|
|
|
|
| Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Altered isoenzyme patterns of liver α‐L‐fucosidase in cystic fibrosis |
|
|
|
|
|
|
|
|
|
| The XX male syndrome ‐A case report |
|
|
|
|
|
|
|
|
|
| A case of atypical Down's syndrome with mosaic <b>46</b>,XX/46,XX‐21+t(21q21q) |
|
|
|
|
|
|
|
|
|
| A man with presumptive Y/Y translocation, observed in a forensic psychiatric department |
|
|
|
|
|
|
|
|
|
| Twins in the sibships and parental sibships of women with Turner's syndrome |
|
|
|
|
|
|
✓ |
✓ |
Danish population |
| Genetic lipoprotein variation and lipid levels in man |
|
|
|
|
|
|
|
|
|
| The Wolf‐Hirschhorn (4p‐) syndrome |
|
|
|
|
|
|
|
|
|
| Human chromosome polymorphism and congenital malformations |
|
|
|
|
|
|
|
|
|
| Significance of genetic factors for the plasma insulin response to glucose in healthy subjects |
|
|
|
|
|
|
|
|
|
| Congenital absence of gluteal muscles Report of two sibs |
|
|
|
|
|
|
|
|
|
| A comparison of the Dermatogram with other indices for the diagnosis of Down's syndrome* |
|
|
|
|
|
|
|
|
|
| A screening test for patients suspected of having Turner syndrome |
|
|
|
|
|
|
|
|
|
| Origin of the extra chromosome in trisomy 16 |
|
|
|
|
|
|
|
|
|
| Autosomal reciprocal translocations and 13/14 translocations: A population study |
|
|
|
|
|
|
|
|
|
| Genetic risks in Perthes' disease |
|
|
|
|
|
|
|
|
|
| Cultured fucosidosis fibroblasts: A simple technique demonstrating storage of tritiated‐fucose labeled material |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Clinical studies in benign (Becker type) X‐linked muscular dystrophy |
|
|
|
|
|
|
|
|
|
| X‐short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp‐;16p+) |
|
|
|
|
|
|
|
|
|
| Frontonasal dysplasia. Possible hereditary connection with other congenital defects |
|
|
|
|
|
|
|
|
|
| Multiple non‐erupting teeth, maxillo‐zygomatical hypoplasia and other congenital defects: An autosomal recessive disorder |
|
|
|
|
|
|
|
|
|
| A familial syndrome of cranial, facial, oral and limb anomalies |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Ultrastructural distinct ion of autosomal dominant ichthyosis vulgaris and X‐linked recessive ichthyosis |
|
|
|
|
|
|
|
|
|
| A methodology for establishing a diagnostic index for syndromes of unknown etiology |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of fucosidosis |
|
|
|
|
|
|
|
|
|
| True hermaphroditism with XX/XY sex chromosome mosaicism: Report of a case |
|
|
|
|
|
|
|
|
|
| Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs |
|
|
|
|
|
|
|
|
|
| Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships |
|
|
|
|
|
|
|
|
|
| A cytogenetic survey of 14,069 newborn infants: II. Preliminary clinical findings on children with sex chromosome anomalies |
|
|
|
|
|
|
|
|
|
| Addendum |
|
|
|
|
|
|
|
|
|
| Hypertrichosis lanuginosa in a mother and son |
|
|
|
|
|
|
|
|
|
| The frequency of PKU and hyperphenylalaninemia in Sweden ‐ a study in institutions for the mentally retarded as well as in neonates |
|
|
|
|
|
|
|
|
|
| Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1 |
|
|
|
|
|
|
|
|
|
| Aberrant axillary breast tissue: A report of a family with six affected women in two generations |
|
|
|
|
|
|
|
|
|
| Structural aberrations of the long arm of chromosome no. 22: Report of a family with translocation t(11;22) (q25;q11)* |
|
|
|
|
|
|
|
|
|
| Survey of amniocentesis for fetal sex determination in hemophilia carriers |
|
|
|
|
|
|
|
|
|
| Further evidence'for the autosomal‐recessive inheritance of the COFS syndrome |
|
|
|
|
|
|
|
|
|
| ABSTRACTS |
|
|
|
|
|
|
|
|
|
| An unusual partial trisomy 13 |
|
|
|
|
|
|
|
|
|
| Inherited t2q‐/15q+ translocation and Down's syndrome |
|
|
|
|
|
|
|
|
|
| Split‐hand and split‐foot deformity inherited as an autosomal recessive trait |
|
|
|
|
|
|
|
|
|
| Aarskog syndrome: New oral‐facial findings |
|
|
|
|
|
|
|
|
|
| Familial branchio‐oto‐renal dysplasia: A new addition to the branchial arch syndromes |
|
|
|
|
|
|
|
|
|
| Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs |
|
|
|
|
|
|
|
|
|
| Triploidy syndrome: A report on two live‐born (69, XXY) and one still‐born (69, XXX) infants |
|
|
|
|
|
|
|
|
|
| A dermatoglyphic study of 219 Italian schizophrenic males |
|
|
|
|
|
|
✓ |
✓ |
Italian |
| Chromosome studies in ovarian hypoplasia |
|
|
|
|
|
|
|
|
|
| Incidence of albinism in British Columbia (B.C.). Separation by hairbulb test |
|
|
|
|
|
|
|
|
|
| Essential tremor, nystagmus and duodenal ulceration: A “new” dominantly inherited condition* |
|
|
|
|
|
|
|
|
Swedish‐Finnish ancestry |
| Inheritance of xanthomatosis and hyper‐β‐lipoproteinaemia: A study of 7 large kind reds |
|
|
|
|
|
|
|
|
|
| A 45, X woman with a 47, XY, G+ son |
|
|
|
|
|
|
|
|
|
| Histidinuria: A renal and intestinal histidine transport deficiency found in two mentally retarded children |
|
|
|
|
|
|
|
|
|
| X‐linked nonspecific mental retardation:Report of a large kindred |
|
|
|
|
|
|
|
|
|
| Red cell glucose‐6‐phosphate dehydrogenase deficiency in ethnic groups in Israel |
|
|
|
|
|
|
✓ |
✓ |
"Jewish and non-Jewish ethnic groups" and "ethnic groups in Israel" |
| Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood |
|
|
|
|
|
|
|
|
|
| Further observations on familial hypobetaliproteinaemia |
|
|
|
|
|
|
|
|
|
| Microphotometry of banded human chromosomes II:Technique for microphotography of banding patterns |
|
|
|
|
|
|
|
|
|
| 48, XXXY Klinefelter syndrome and nail‐patella syndrome in the same child |
|
|
|
|
|
|
|
|
|
| Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects:Madison blind study IV |
|
|
|
|
|
|
|
|
|
| Polycystic kidney disease in a patient with the oral‐facial‐digital syndrome‐Type I* |
|
|
|
|
|
|
|
|
|
| An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl |
|
|
|
|
|
|
|
|
|
| Autosomal recessive muscular dystrophy in Manitoba Hutterites* |
|
|
|
|
|
|
|
|
introduced from Europe between 1874 and 1879 |
| The inheritance of hyperipoproteinaemia with xanthomatosis:A study of 132 kindreds |
|
|
|
|
|
|
|
|
|
| Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage? |
|
|
|
|
|
|
|
|
|
| Inheritance of hypoplastic left heart syndrome (HLHS): Further observations* |
|
|
|
|
|
|
|
|
|
| Partial trisomy of the long arm of chromosome 7 |
|
|
|
|
|
|
|
|
|
| Psychological responses to genetic counseling for Down's syndrome |
|
|
|
|
|
|
|
|
|
| Cardio‐cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new family |
|
|
|
|
|
|
|
|
|
| A genetic study of facial clefting in Northern England |
|
|
|
|
|
|
|
|
|
| Hypospadias in successive generations ‐ possible dominant gene inheritance |
|
|
|
|
|
|
|
|
|
| A new chromosome deletion syndrome. Report of a patient with a 46, XY,8p‐ chromosome constitution |
|
|
|
|
|
|
|
|
|
| Re‐evaluation of the effect of spray adhesives on human chromosomes |
|
|
|
|
|
|
|
|
|
| Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome* |
|
|
|
|
|
|
|
|
|
| Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation |
|
|
|
|
|
|
|
|
|
| The position of the external ear in Turner's syndrome |
|
|
|
|
|
|
|
|
|
| Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature |
|
|
|
|
|
|
|
|
|
| Four cases of omphalocele in two generations of the same family |
|
|
|
|
|
|
|
|
|
| Further evidence for the existence of genetically determined metabolic differences between Lp(a+) and Lp(a‐) individuals |
|
|
|
|
|
|
|
|
|
| The X chromosome in Duchenne's muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Reference interval for maternal serum alpha‐fetoprotein |
|
|
|
|
|
|
|
|
|
| Letters to the Editor |
|
|
|
|
|
|
|
|
|
| Letter to the Editor |
|
|
|
|
|
|
|
|
|
| Letter to the Editor |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Trisomy of chromosome 20 |
|
|
|
|
|
|
|
|
|
| An extra small metacentric chromosome identified as a deleted chromosome No. 17 |
|
|
|
|
|
|
|
|
|
| An anomaly in the inheritance of haptoglobin types in Down's syndrome: A study of mother‐child pairs |
|
|
|
|
|
|
|
|
|
| The genetics of and associated clinical findings in humero‐radial synostosis |
|
|
|
|
|
|
|
|
|
| Natal teeth, patent ductus arteriosus and intestinal pseudo‐obstruction: A lethal syndrome in the newborn |
|
|
|
|
|
|
|
|
|
| Clinical diagnosis of Down's syndrome |
|
|
|
|
|
|
|
|
|
| Congenital generalized fibromatosis: an autosomal recessive condition? |
|
|
|
|
|
|
|
|
|
| Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency |
|
|
|
|
|
|
|
|
|
| Lysosomal enzyme levels in human amniotic fluid cells in tissue culture:IV. %A N‐acetyl‐β‐D‐glucosaminidase |
|
|
|
|
|
|
|
|
|
| Cutis laxa and lamellar ichthyosis in siblings |
|
|
|
|
|
|
|
|
|
| Analbuminemia in an American Indian girl |
|
|
|
|
|
|
✓ |
✓ |
American Indian |
| Cystic fibrosis: A cell culture study on an adult patient population* |
|
|
|
|
|
|
|
|
|
| Mucolipidosis II and III: different residual activity of beta‐galactosidase in cultured fibroblasts* |
|
|
|
|
|
|
|
|
|
| Segregation within a family of two mutant alleles for hexosaminidase A |
|
|
|
|
|
|
✓ |
✓ |
non-Jewish |
| Announcement |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk |
|
|
|
|
|
|
|
|
|
| Description of the banding patterns of human chromosomes by acridine orange reverse banding (RFA) and comparison with the Paris banding diagram |
|
|
|
|
|
|
|
|
|
| Specific 5α‐dihydrotestosterone binding in labial skin fibroblasts c1ultured from patients with male pseudohermaphroditism |
|
|
|
|
|
|
|
|
|
| Significance of HLA and blood‐group incompatibility in spontaneous abortion |
|
|
|
|
|
|
|
|
|
| Chromosomal breaks in T and B lymphocytes in Fanconi's anemia |
|
|
|
|
|
|
|
|
|
| Estimates of the heritability of serum lipoprotein and lipid concentrations |
|
|
|
|
|
|
|
|
|
| Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations |
|
|
|
|
|
|
|
|
|
| White cell function in Down's syndrome |
|
|
|
|
|
|
|
|
|
| High variability in mongoloid dermatoglyphs |
|
|
|
|
|
|
✓ |
✓ |
mongoloid |
| Y/autosomal translocations |
|
|
|
|
|
|
|
|
|
| Mental retardation, malformation syndrome and partial 7p monosomy [45, XX, tdic (7;15) (p21;pll)] |
|
|
|
|
|
|
|
|
|
| Familial Lipogranulomatosis (Farber's disease) |
|
|
|
|
|
|
|
|
|
| Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27) |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Comparison of alphafetoprotein and β‐ trace protein in the antenatal diagnosis of anencephaly and spina bifida |
|
|
|
|
|
|
|
|
|
| Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom |
|
|
|
|
|
|
|
|
|
| Clinical and biochemical expression of a unique mucopolysaccharidosis |
|
|
|
|
|
|
|
|
|
| Three successive prenatal diagnoses of 47,XY,+21 |
|
|
|
|
|
|
|
|
|
| Dermatoglyphics in mosaic Down's syndrome |
|
|
|
|
|
|
|
|
|
| Three siblings with Robert's syndrome |
|
|
|
|
|
|
|
|
|
| Partial trisomy 5 with a carrier parent t(5p‐;9p+) |
|
|
|
|
|
|
|
|
|
| Dermatoglyphics in 45X/46XX gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| Letters to The Editor |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Partial trisomy 15 in a young girl |
|
|
|
|
|
|
|
|
|
| Familial short atrioventricular conduction time (P‐R interval) |
|
|
|
|
|
|
|
|
|
| Standardization in Human Cytogenetics |
|
|
|
|
|
|
|
|
|
| Infantile XX male: A case report |
|
|
|
|
|
|
|
|
|
| A simple, rapid method for prenatal detection of defects in propionate metabolism |
|
|
|
|
|
|
|
|
|
| Alpha‐1‐antitrypsin (Pi) types in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of the long arm of chromosome no. 7 (7q‐) in an infant with multiple anomalies |
|
|
|
|
|
|
|
|
|
| A three chromosome translocation involving two homologous chromosomes in a trisomic abortus |
|
|
|
|
|
|
|
|
|
| Dominant ichthyosis vulgaris with an ultrastructuraally normal granular layer |
|
|
|
|
|
|
|
|
|
| Identical tetramelic monodactyly in two brothers |
|
|
|
|
|
|
|
|
|
| A case of trisomy 20? |
|
|
|
|
|
|
|
|
|
| Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period |
|
|
|
|
|
|
|
|
|
| X‐linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings |
|
|
|
|
|
|
|
|
|
| Trisomy 21 in mother and daughter |
|
|
|
|
|
|
|
|
|
| 45, XO/46, XYq dic mosaicism in a patient with ambiguous genitalia |
|
|
|
|
|
|
|
|
|
| Familial carcinoma of the pancreas* |
|
|
|
|
|
|
|
|
|
| Lp(a) Lipoprotein/pre‐β<sub>1</sub>‐lipoprotein, serum lipids and atherosclerotic disease |
|
|
|
|
|
|
|
|
|
| The distribution of the third complement component and other polymorphic traits in rheumatoid arthritis |
|
|
|
|
|
✓ |
✓ |
✓ |
common European variant; Japanese |
| β‐Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM<sub>1</sub>‐gangIiosidosis |
|
|
|
|
|
|
|
|
|