Cows' milk allergy in the syndrome of thrombocytopenia with absent radius.

Whitfield, Michael F.; Barr, D. G. D.

doi:10.1136/adc.51.5.337

Cited by 62 publications

(23 citation statements)

References 28 publications

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“…In 90% of cases thrombocytopenia is clinically apparent, with development of petechiae. Stress or infection may precipitate life threatening thrombocytopenic crises [15]. The haematological abnormalities remit towards puberty [8].…”

Section: Discussionmentioning

confidence: 99%

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Thrombocytopenia and absent radius (TAR) syndrome

Fromm

Niethard

Marquardt

1991

International Orthopaedics

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Section: Discussionmentioning

confidence: 99%

“…Such a case has been reported before [15], although some authorities consider that the criteria for the TAR syndrome are not fully fulfilled [101.…”

Section: Discussionmentioning

confidence: 99%

Thrombocytopenia and absent radius (TAR) syndrome

Fromm

Niethard

Marquardt

1991

International Orthopaedics

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“…4 6 7 An episode of thrombocytopenia may be precipitated by introduction of cow's milk, and relieved by its exclusion from the diet. 6 Between 22 and 33% of children with TAR syndrome are reported as having congenital heart disease, tetralogy of Fallot and atrial septal defects being the most commonly reported lesions. 1 4 The genetic basis of TAR syndrome is uncertain.…”

mentioning

confidence: 99%

Thrombocytopenia-absent radius syndrome: a clinical genetic study

Greenhalgh

Howell²,

Bottani³

et al. 2002

Journal of Medical Genetics

177

143

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“…20 TAR syndrome is believed to be an autosomal recessive disease with an unknown molecular defect. 22 It is considered a complex trait requiring at least 2 unlinked alleles to manifest the phenotype. It is associated with a microdeletion on 1q21.1 that is necessary but not sufficient to cause the phenotype, as it is present in some unaffected family members.…”

Section: Deletion and Duplication Syndromesmentioning

confidence: 99%

Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion

Khan

Toews

Wang

et al. 2012

Journal of Pediatric Hematology/Oncology

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Chromosome 1 is the largest of all human chromosomes, containing 3141 genes. It is linked to 890 known genetic diseases including congenital hypothyroidism, hemochromatosis, and prostate cancer. Recognized deletion and duplication syndromes have been described. Deletions in the short arm (p) of the chromosome have been identified in tumors of the brain and kidneys. Duplications in the long (q) arm of the chromosome are reported in myelodysplastic syndromes. Solitary 1p36 deletion or 1q42 duplication are rarely reported entities and their associations with malignancy have not been characterized. We report a case of a child with constitutional 1pter-p36.31 duplication and 1q43-qter deletion who developed acute lymphoblastic leukemia (ALL). The patient's oncologic presentation and subsequent clinical course raise the question of the association of the underlying genetic abnormality and its malignant potential, specifically in relation to ALL. Acquired chromosome 1 deletions and duplications have been well described in other malignant diseases. Constitutional chromosome 1p duplication and 1q deletions have not been described with ALL.

show abstract

Cows' milk allergy in the syndrome of thrombocytopenia with absent radius.

Cited by 62 publications

References 28 publications

Thrombocytopenia and absent radius (TAR) syndrome

Thrombocytopenia and absent radius (TAR) syndrome

Thrombocytopenia-absent radius syndrome: a clinical genetic study

Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion

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