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. 1969 Mar;21(2):196–227.

Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.

PMCID: PMC1706430 PMID: 5770175

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

BLOOM D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA Am J Dis Child. 1954 Dec;88(6):754–758. [PubMed] [Google Scholar]
BLOOM GENODERMATOSES. Med Clin North Am. 1965 May;49:695–708. doi: 10.1016/s0025-7125(16)33315-6. [DOI] [PubMed] [Google Scholar]
BRUTON O. C. Agammaglobulinemia. Pediatrics. 1952 Jun;9(6):722–728. [PubMed] [Google Scholar]
Bloom D. The syndrome of congenital telangiectatic erythema and stunted growth. J Pediatr. 1966 Jan;68(1):103–113. doi: 10.1016/s0022-3476(66)80426-2. [DOI] [PubMed] [Google Scholar]
Bloom G. E., Warner S., Gerald P. S., Diamond L. K. Chromosome abnormalities in constitutional aplastic anemia. N Engl J Med. 1966 Jan 6;274(1):8–14. doi: 10.1056/NEJM196601062740102. [DOI] [PubMed] [Google Scholar]
GERMAN J., ARCHIBALD R., BLOOM D. CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN. Science. 1965 Apr 23;148(3669):506–507. doi: 10.1126/science.148.3669.506. [DOI] [PubMed] [Google Scholar]
GERMAN J. CYTOLOGICAL EVIDENCE FOR CROSSING-OVER IN VITRO IN HUMAN LYMPHOID CELLS. Science. 1964 Apr 17;144(3616):298–301. doi: 10.1126/science.144.3616.298. [DOI] [PubMed] [Google Scholar]
Gellis S. S., Feingold M., Bloom D. Denouement and discussion. Bloom's syndrome. (Congenital telangiectasis erythema and stunted growth). Am J Dis Child. 1966 Dec;112(6):581–582. [PubMed] [Google Scholar]
Gropp A., Flatz G. Chromosome breakage and blastic transformation of lymphocytes in ataxia-telangiectasia. Humangenetik. 1967 Nov 29;5(1):77–79. doi: 10.1007/BF00286217. [DOI] [PubMed] [Google Scholar]
HILLMAN D. A., CRAWFORD J. D., TALBOT N. B. Observations on the etiology of dwarfism in congenital telangiectatic erythema. Pediatrics. 1957 Aug;20(2):268–271. [PubMed] [Google Scholar]
Hooft C., Lannoo R., Van Acker K. J. Erythème télangiectasique congénital avec retard de croissance (syndrome de Bloom) Acta Paediatr Belg. 1967;21(5):353–370. [PubMed] [Google Scholar]
KATZENELLENBOGEN I., LARON Z. A contribution to Bloom's syndrome. Congenital telangiectatic erythema resembling lypus erythematosus in dwarfs. Arch Dermatol. 1960 Oct;82:609–616. doi: 10.1001/archderm.1960.01580040127022. [DOI] [PubMed] [Google Scholar]
Karn M. N., Penrose L. S. Birth weight and gestation time in relation to maternal age, parity and infant survival. Ann Eugen. 1952;16:147–164. [PubMed] [Google Scholar]
Keutel J., Marghescu S., Teller W. Bloom-Syndrom. Bericht über einen Fall mit dermatohistologischen, endokrinologischen, immunologischen und cytogenetischen Untersuchungen. Z Kinderheilkd. 1967;101(2):165–180. [PubMed] [Google Scholar]
Landau J. W., Sasaki M. S., Newcomer V. D., Norman A. Bloom's syndrome. The syndrome of telangiectatic erythema and growth retardation. Arch Dermatol. 1966 Dec;94(6):687–694. doi: 10.1001/archderm.94.6.687. [DOI] [PubMed] [Google Scholar]
Landau J., Katzenellenbogen I., Laron Z. Eye findings in congenital telangiectatic erythema and growth retardation (Bloom's syndrome). Am J Ophthalmol. 1966 Oct;62(4):753–754. doi: 10.1016/0002-9394(66)92204-5. [DOI] [PubMed] [Google Scholar]
Li C. C., Mantel N. A simple method of estimating the segregation ratio under complete ascertainment. Am J Hum Genet. 1968 Jan;20(1):61–81. [PMC free article] [PubMed] [Google Scholar]
Löhr G. W., Waller H. D., Anschütz F., Knopp A. Biochemische Defekte in den Blutzellen bei familiärer Panmyelopathie (Typ Fanconi) Humangenetik. 1965;1(4):383–387. doi: 10.1007/BF00273980. [DOI] [PubMed] [Google Scholar]
Löhr G. W., Waller H. D., Anschütz F., Knopp A. Hexokinasemangel in Blutzellen bei einer Sippe mit familiärer Panmyelopathie (Typ Fanconi) Klin Wochenschr. 1965 Aug 15;43(16):870–875. doi: 10.1007/BF01711251. [DOI] [PubMed] [Google Scholar]
STEINBERG A. G. Methodology in human genetics. J Med Educ. 1959 Apr;34(4):315–334. [PubMed] [Google Scholar]
SZALAY G. C. Dwarfism with skin manifestations. J Pediatr. 1963 May;62:686–695. doi: 10.1016/s0022-3476(63)80038-4. [DOI] [PubMed] [Google Scholar]
Sawitsky A., Bloom D., German J. Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth. Ann Intern Med. 1966 Sep;65(3):487–495. doi: 10.7326/0003-4819-65-3-487. [DOI] [PubMed] [Google Scholar]
Schmid W., Schärer K., Baumann T., Fanconi G. Chromosomenbrüchigkeit bei der familiären Panmyelopathie (Typus Fanconi) Schweiz Med Wochenschr. 1965 Oct 23;95(43):1461–1464. [PubMed] [Google Scholar]
Schoen E. J., Shearn M. A. Immunoglobulin deficiency in Bloom's syndrome. Am J Dis Child. 1967 May;113(5):594–596. doi: 10.1001/archpedi.1967.02090200126017. [DOI] [PubMed] [Google Scholar]
Schroeder T. M., Anschütz F., Knopp A. Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik. 1964;1(2):194–196. doi: 10.1007/BF00389636. [DOI] [PubMed] [Google Scholar]
Schroeder T. M. Cytogenetische und cytologische Befunde bei enzymopenischen Panmyelopathien und Pancytopenien. Familiäre Panmyelopathie Typ Fanconi, Glutathionreduktasemangel-Anämie und megaloblastäre Vitamin B12-Mangel-Anämie. Humangenetik. 1966;2(3):287–316. doi: 10.1007/BF00395947. [DOI] [PubMed] [Google Scholar]
Swift M. R., Hirschhorn K. Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues. Ann Intern Med. 1966 Sep;65(3):496–503. doi: 10.7326/0003-4819-65-3-496. [DOI] [PubMed] [Google Scholar]
de Grouchy J. Genetic diseases, chromosome rearrangements, and malignancy. Ann Intern Med. 1966 Sep;65(3):603–607. doi: 10.7326/0003-4819-65-3-603. [DOI] [PubMed] [Google Scholar]

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