{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:09:03Z","timestamp":1791266943099,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5027,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X\u2010linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations and<jats:italic>de novo<\/jats:italic>chromosome rearrangements involving Xp22, observations of father\u2010to\u2010daughter transmission have suggested possible genetic heterogeneity and autosomal dominant inheritance with sex limitation. We hypothesize that, if FDH is an X\u2010linked disorder, cells expressing an active disease locus might experience a selective disadvantage resulting in a nonrandom pattern of X\u2010inactivation in patient tissue. To test this hypothesis, we studied one of the two previously described families demonstrating father\u2010to\u2010daughter inheritance of FDH. To determine if the affected daughter had a skewed pattern of X\u2010inactivation consistent with X\u2010linked inheritance of FDH, somatic cell hybrids were constructed by fusing hypoxanthine phosphoribosyl transferase (HPRT)\u2010deficient rodent fibro\u2010blasts with either patient dermal fibroblasts or peripheral white blood cells (WBCs); hybrid clones retaining an active X chromosome were analyzed to determine the parental origin of the active X chromosome. Analyses of resulting hybrid clones showed that while hybrids constructed from skin fibroblasts contained an active X chromosome inherited from either of the patient's parents, hybrids constructed from WBCs showed a skewed pattern of X\u2010inactivation; 11 of 11 hybrids contained an active maternal X chromosome (X<jats:sup>2<\/jats:sup>= 12.2,<jats:italic>P<\/jats:italic>= .001). These findings indicated that, in this family, FDH was associated with a nonrandom pattern of X\u2010inactivation consistent with X\u2010linked inheritance, suggesting that the patient's father was mosaic for a mutant FDH allele.<\/jats:p>","DOI":"10.1002\/ajmg.1320400317","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:24:13Z","timestamp":1118550253000},"page":"332-337","source":"Crossref","is-referenced-by-count":30,"title":["Father\u2010to\u2010daughter transmission of focal dermal hypoplasia associated with nonrandom X\u2010inactivation: Support for X\u2010linked inheritance and paternal X chromosome mosaicism"],"prefix":"10.1002","volume":"40","author":[{"given":"Jerome L.","family":"Gorski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00486413"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.59"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(81)70027-6"},{"key":"e_1_2_1_5_1","first-page":"365","volume-title":"Experimental Approaches to Mammalian Embryonic Development","author":"Chapman VM","year":"1986"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198608283150907"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198702193160802"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb01813.x"},{"key":"e_1_2_1_10_1","first-page":"667","article-title":"Congenital ectodermal dysplasia and mesodermal dysplasia","volume":"71","author":"Freeman CD","year":"1955","journal-title":"AMA Arch Dermatol Syph"},{"key":"e_1_2_1_11_1","first-page":"37","volume-title":"Ectodermal Dysplasias: A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_12_1","first-page":"37","article-title":"Focal dermal hypoplasia (Goltz syndrome) in a male","volume":"31","author":"Fryns JP","year":"1978","journal-title":"Acta Paediatr Belg"},{"key":"e_1_2_1_13_1","first-page":"1086","article-title":"Deletion and amplification of the HGPRT locus in Chinese hamster cells","volume":"3","author":"Fuscoe JC","year":"1983","journal-title":"J Mol Cell Biol"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)90492-4"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.110.3.561"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archderm.1970.04000010003001","article-title":"Focal dermal hypoplasia syndrome\u2010A review of the literature and report of two cases","volume":"101","author":"Goltz RW","year":"1970","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132849"},{"key":"e_1_2_1_19_1","first-page":"355","article-title":"Review and hypotheses: Somatic mosaicism: Observations related to clinical genetics","volume":"43","author":"Hall JG","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285169"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(87)52018-3"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1093\/genetics\/78.4.1143","article-title":"The locus for human adenine phosphoribosyltransferase is on chromosome 16","volume":"78","author":"Kahan B","year":"1974","journal-title":"Genetics"},{"key":"e_1_2_1_23_1","first-page":"491","article-title":"L'hypoplasie dermique en aires; consid\u00e9rations sur l'osteopathie stri\u00e9e et sur le probl\u00e9me g\u00e9n\u00e9tigue","volume":"98","author":"Larregue M","year":"1971","journal-title":"Ann Dermatol Syph"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","unstructured":"LegiusE BatenE StulM MarymenP CassimanJ\u2010J(1990): Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.Clin Genet(in press).","DOI":"10.1111\/j.1399-0004.1990.tb03565.x"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198810133191507"},{"key":"e_1_2_1_26_1","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Maniatis T","year":"1982"},{"key":"e_1_2_1_27_1","first-page":"100","article-title":"Selection against alleles in females heterozygous for incontinentia pigmenti","volume":"44","author":"Migeon BR","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80649-3"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1182\/blood.V56.6.1048.1048","article-title":"Wiskott\u2010Aldrich syndrome: Cellular impairments and their implications for carrier detection","volume":"56","author":"Prchal JT","year":"1980","journal-title":"Blood"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.20.7207"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00628.x"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.56"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.180"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2982210"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289472"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00392.x"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00693522"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400317","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400317","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T16:34:53Z","timestamp":1706286893000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,9]]}},"alternative-id":["10.1002\/ajmg.1320400317"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400317","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,9]]}}}