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Title: Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

Abstract

Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.

Authors:
; ; ;  [1]
  1. Univ. of South Florida, St. Petersburg, FL (United States); and others
Publication Date:
OSTI Identifier:
447701
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 61; Journal Issue: 1; Other Information: PBD: 2 Jan 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOMES; CHROMOSOMAL ABERRATIONS; CHROMOSOME BREAKAGE; GENETIC MAPPING; PATIENTS; HEREDITARY DISEASES; ANEMIAS; PHENOTYPE; CONGENITAL MALFORMATIONS; DIAGNOSIS

Citation Formats

Rossbach, H C, Granan, N H, Rossi, A R, and Barbosa, J L. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.3.CO;2-U.
Rossbach, H C, Granan, N H, Rossi, A R, & Barbosa, J L. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. United States. https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.3.CO;2-U
Rossbach, H C, Granan, N H, Rossi, A R, and Barbosa, J L. 1996. "Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome". United States. https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.3.CO;2-U.
@article{osti_447701,
title = {Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome},
author = {Rossbach, H C and Granan, N H and Rossi, A R and Barbosa, J L},
abstractNote = {Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.3.CO;2-U},
url = {https://www.osti.gov/biblio/447701}, journal = {American Journal of Medical Genetics},
number = 1,
volume = 61,
place = {United States},
year = {Tue Jan 02 00:00:00 EST 1996},
month = {Tue Jan 02 00:00:00 EST 1996}
}