GONADAL DYSGENESIS WITH XX-ISOCHROMOSOME CONSTITUTION AND ABNORMAL THYROID PATTERNS

1967 ◽  
Vol 54 (4) ◽  
pp. 609-617 ◽  
Author(s):  
R. G. Milet ◽  
E. R. Plunkett ◽  
D. H. Carr
Keyword(s):  
Autoimmune Disease ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Ridge Count ◽  
Suppurative Otitis Media ◽  
Lyon Hypothesis ◽  
Relationship Of ◽  
The Relationship ◽  
Thyroid Abnormalities

ABSTRACT The authors report a female patient with XXi constitution for the long arm of the X chromosome associated with thyroid abnormalities, high digital ridge count and chronic suppurative otitis media. This is followed by a discussion of the correlation between genotype and phenotype, comment on the Lyon hypothesis, the relationship of thyroid abnormalities to this condition, autoimmune disease, unbalanced sex chromosomal constitution and the association with a high total digital ridge count. Finally a single hypothesis is proposed for the associated clinical entities that have been found and the suggestion that the classification of this particular type of gonadal dysgenesis be considered as a new syndrome, the »XX-isochromosome syndrome«.

Carriers with excessively low factor VIII procoagulant activity (VIII AHF): a study of two unrelated families with mild hemophilia A

Blood ◽  
1977 ◽  
Vol 49 (4) ◽  
pp. 607-618 ◽  
Author(s):  
ME Eyster ◽  
RL Ladda ◽  
HS Bowman
Keyword(s):  
Hemophilia A ◽  
Postoperative Bleeding ◽  
Hemorrhagic Diathesis ◽  
Normal Range ◽  
Paternal Aunt ◽  
History Of ◽  
Paternal Grandmother ◽  
Low Levels ◽  
Lyon Hypothesis ◽  
Successive Generations

Abstract Two unrelated families are described with mild hemophilia A in whom six obligate carriers had unusually low VIII AHF levels. In each family, successive generations of males were affected with hemophilia A as determined by low VIII AHF in the presence of normal VIII AGN and VIII VWF levels. In the first family, two of five obligate carriers had low VIII AHF levels associated with clinical bleeding and one other had a history of bleeding. While receiving oral contraceptives, one of these two carriers was found to have a normal VIII AHF level. In the second family, four cousins below age 10 who were obligate carriers had significantly low VIII AHF levels, while a paternal aunt and paternal grandmother who were also obligate carriers had VIII AHF levels within the normal range. Hemorrhagic diathesis in multiple obligate carriers in these families is not readily explained by the Lyon hypothesis, and suggests that these families may be exmaples of an unusual allelic form of hemophilia A or that they may be transmitting several independent genes affecting VIII AHF levels. Our experience suggests that VIII AHF levels should be determined on all obligate or possible carriers prior to surgery to identify those individuals at risk for postoperative bleeding. Furthermore, it is suggested that hormonal therapy might be effective in the management of carriers with low levels of VIII AHF and clinical bleeding.

THE LYON HYPOTHESIS

The Lancet ◽  
1963 ◽  
Vol 282 (7305) ◽  
pp. 467-468 ◽  
Author(s):  
T EDWARDREED
Keyword(s):  
Lyon Hypothesis

scholarly journals Gene action in the mammalian X-chromosome

1967 ◽  
Vol 9 (3) ◽  
pp. 343-357 ◽  
Author(s):  
Hans Grüneberg
Keyword(s):  
X Chromosome ◽  
Dosage Compensation ◽  
Gene Action ◽  
X Chromosomes ◽  
Independent Evidence ◽  
Partial Inhibition ◽  
Lyon Hypothesis ◽  
New Hypothesis

Contrary to opinions expressed by various authors, the phenotype of heterozygotes for mammalian sex-linked genes gives no support for the Lyon hypothesis (L.H.). Evidence, mainly from the mouse, shows that in such heterozygotes, both alleles act together as in autosomal genes.In the present paper, it is shown that neither the behaviour of double heterozygotes for sex-linked genes nor that of X-autosome translocations provides independent evidence in favour of the L.H.: in each case, the interpretation depends on that of the behaviour of single heterozygotes and hence fails to discriminate. Moreover, new facts from both types of situation are also contrary to the L.H. In particular, a unified interpretation which fits the behaviour of genes in all known types of X-autosome translocations in the mouse requires the assumption that partial inhibition of gene action happens in both X-chromosomes of mouse females, and presumably the females of other mammals. The new hypothesis is consistent with all relevant genetical facts and, like the L.H., it also accounts for dosage compensation.

THE LYON HYPOTHESIS AND FURTHER MALFORMATION POSTULATES IN THE CHROMOSOMAL SYNDROMES

The Lancet ◽  
1963 ◽  
Vol 282 (7318) ◽  
pp. 1169-1170 ◽  
Author(s):  
RussellA Rohde ◽  
Nataline Berman
Keyword(s):  
Lyon Hypothesis

scholarly journals HURLER'S SYNDROME: A GENETIC STUDY OF CLONES IN CELL CULTURE WITH PARTICULAR REFERENCE TO THE LYON HYPOTHESIS

1967 ◽  
Vol 126 (3) ◽  
pp. 509-522 ◽  
Author(s):  
B. Shannon Danes ◽  
Alexander G. Bearn
Keyword(s):  
Acid Content ◽  
Uronic Acid ◽  
Normal Individuals ◽  
Distinct Cell ◽  
Uronic Acid Content ◽  
Recessive Form ◽  
Hurler’S Syndrome ◽  
Heterozygous Carriers ◽  
Lyon Hypothesis ◽  
Two Populations

Clones of skin fibroblasts from normal individuals, patients with different mucopolysaccharidoses, and certain of their relatives have been examined for cellular metachromasia and cellular uronic acid. All the clones derived from affected individuals and heterozygous carriers in families with the autosomal forms of Hurler's syndrome showed marked metachromasia and increased cellular uronic acid. Since only one cell population was demonstrated in clones derived from heterozygous carriers, no evidence for autosomal inactivation was obtained. Clones derived from affected individuals with the X-linked recessive form of Hurler's syndrome contained uniform populations of metachromatic staining cells which demonstrated increased cellular uronic acid. Clones derived from the noncarrier fathers showed no cellular metachromasia or increased cellular uronic acid. Clones derived from the heterozygous mothers and sisters showed two populations both qualitatively and quantitatively. On the average, 72% of these clones were metachromatic and demonstrated an increased uronic acid content; 28% of the clones showed no metachromasia and the uronic acid content was similar to that found in normal individuals. The appearance of two distinct cell populations in clones derived from females heterozygous for the X-linked recessive form of Hurler's syndrome provides evidence in favor of the Lyon hypothesis.

Sex Chromatin Patterns and the Lyon Hypothesis

Science ◽  
1963 ◽  
Vol 141 (3581) ◽  
pp. 649-650 ◽  
Author(s):  
R. DeMars
Keyword(s):  
Sex Chromatin ◽  
Lyon Hypothesis ◽  
Chromatin Patterns

FLUORESCENT-ANTIBODY TECHNIQUE AND THE LYON HYPOTHESIS

The Lancet ◽  
1964 ◽  
Vol 283 (7347) ◽  
pp. 1392-1393 ◽  
Author(s):  
Flossie Cohen ◽  
WolfW Zuelzer ◽  
MargaretM Evans ◽  
T.Edward Reed
Keyword(s):  
Fluorescent Antibody ◽  
Fluorescent Antibody Technique ◽  
Antibody Technique ◽  
Lyon Hypothesis

scholarly journals Carriers with excessively low factor VIII procoagulant activity (VIII AHF): a study of two unrelated families with mild hemophilia A

Blood ◽  
1977 ◽  
Vol 49 (4) ◽  
pp. 607-618
Author(s):  
ME Eyster ◽  
RL Ladda ◽  
HS Bowman
Keyword(s):  
Hemophilia A ◽  
Postoperative Bleeding ◽  
Hemorrhagic Diathesis ◽  
Normal Range ◽  
Paternal Aunt ◽  
History Of ◽  
Paternal Grandmother ◽  
Low Levels ◽  
Lyon Hypothesis ◽  
Successive Generations

Two unrelated families are described with mild hemophilia A in whom six obligate carriers had unusually low VIII AHF levels. In each family, successive generations of males were affected with hemophilia A as determined by low VIII AHF in the presence of normal VIII AGN and VIII VWF levels. In the first family, two of five obligate carriers had low VIII AHF levels associated with clinical bleeding and one other had a history of bleeding. While receiving oral contraceptives, one of these two carriers was found to have a normal VIII AHF level. In the second family, four cousins below age 10 who were obligate carriers had significantly low VIII AHF levels, while a paternal aunt and paternal grandmother who were also obligate carriers had VIII AHF levels within the normal range. Hemorrhagic diathesis in multiple obligate carriers in these families is not readily explained by the Lyon hypothesis, and suggests that these families may be exmaples of an unusual allelic form of hemophilia A or that they may be transmitting several independent genes affecting VIII AHF levels. Our experience suggests that VIII AHF levels should be determined on all obligate or possible carriers prior to surgery to identify those individuals at risk for postoperative bleeding. Furthermore, it is suggested that hormonal therapy might be effective in the management of carriers with low levels of VIII AHF and clinical bleeding.

Mosaic 47♀XX(X-p) and the Lyon hypothesis

1972 ◽  
Vol 63 (6) ◽  
pp. 381-383
Author(s):  
JOSEPH G. BOHORFOUSH ◽  
ANDRES R. FERNANDEZ ◽  
CLYDE KEELER
Keyword(s):  
Lyon Hypothesis
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