{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T05:29:50Z","timestamp":1761974990982},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":4707,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1993,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have successfully undertaken the prenatal diagnosis of two hereditary syndromes associating albinism and immune defects. Because the genes responsible for these diseases have not yet been mapped and the immune abnormalities are too subtle to be diagnosed <jats:italic>in utero<\/jats:italic>, the prenatal diagnosis was made using a morphological approach. In the case of Chediak\u2010Higashi syndrome, it was based on light microscopic examination of the hair shaft and on light and electron microscopic study of polymorphonuclear cells. In the syndrome associating immune deficiency and partial albinism, the Griscelli syndrome, only examination of the hair was feasible. The diagnosis was negative in 12 fetuses at risk and positive in four.<\/jats:p>","DOI":"10.1002\/pd.1970130104","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:29:10Z","timestamp":1172989750000},"page":"13-20","source":"Crossref","is-referenced-by-count":29,"title":["Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak\u2010Higashi syndrome and variant)"],"prefix":"10.1002","volume":"13","author":[{"given":"A.","family":"Durandy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Breton\u2010Gorius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Guy\u2010Grand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Dumez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Griscelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.157.1.273"},{"key":"e_1_2_1_3_1","first-page":"5","article-title":"Ultrastructure of normal and leukemic leucocytes in human peripheral blood","volume":"9","author":"Anderson D. R.","year":"1966","journal-title":"J. Ultrastruct. Res."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197207000-00001"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196811072791901"},{"key":"e_1_2_1_6_1","first-page":"362","article-title":"Nouvelle anomalie leucocytaire de caractere constitutionnel et familial","volume":"7","author":"Chediak M.","year":"1952","journal-title":"Rev. H\u00e9matol"},{"key":"e_1_2_1_7_1","first-page":"745","article-title":"The Chediak\u2010Higashi syndrome. Evidence that defective leukotaxis is primarily due to an impediment by giant granules","volume":"92","author":"Clawson C. O.","year":"1978","journal-title":"Am. J. Pathol"},{"key":"e_1_2_1_8_1","unstructured":"Durandy A. Griscelli C.(1990). Developpement des fonctions immunitaires au cours de la vie foetale. In: Moirin G. A. et al. (Eds).Immunologie de la Reproduction 417\u2013426."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)91898-0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/14.4.291"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90858-6"},{"key":"e_1_2_1_12_1","first-page":"315","article-title":"Congenital gigantism of peroxidase granules","volume":"59","author":"Higashi O.","year":"1954","journal-title":"J. Exp. Med."},{"key":"e_1_2_1_13_1","first-page":"59","volume-title":"Monograph in Neonatology","author":"Miller R. E.","year":"1978"},{"key":"e_1_2_1_14_1","first-page":"664","article-title":"Identification of a subpopulation of primary granules in human neutrophils, based upon maturation and distribution: study by transmission electron microscopy on high voltage electron microscopy of whole cell preparations","volume":"53","author":"Pryzwansky K.","year":"1985","journal-title":"Lab. Invest"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1980.tb04577.x"},{"key":"e_1_2_1_16_1","first-page":"1055","article-title":"Reversal of natural killer defect in a patient with Chediak\u2010Higashi syndrome after bone marrow transplantation","volume":"306","author":"Virelizier J. L.","year":"1982","journal-title":"Lancet"},{"key":"e_1_2_1_17_1","first-page":"177","article-title":"Chediak\u2010Higashi syndrome\u2014neutrophils are characterized by the absence of both normal azurophilic granules","volume":"122","author":"West B. C.","year":"1986","journal-title":"Am. J. 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