Summary
A newborn male with a large diaphragmatic hernia presented in severe respiratory distress. Additional features included a paucity of subcutaneous tissue, mild facial dysmorphism, webbing of the neck, genital hypoplasia, and flexion contractures of the fingers. His karyotype showed a previously unreported de novo interstitial deletion of the long arm of chromosome 1[46,XY,de(1)(pter→q32.3::q42.3→qter)]. Regional mapping of five human genes that have been provisionally assigned to chromosome 1 was performed by restriction analysis of genomic DNA from this patient. Glucocerebrosidase, H4 histone, renin, and alpha-spectrin genes mapped outside the delected region, whereas an H subunit of the ferritin gene mapped to 1q32→q42. These results indicate the utility of chromosomal deletions in gene mapping, and the importance of karyotype analysis in newborns with diaphragmatic hernias.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Boyd D, Vecoli C, Belcher DM, Jain SK, Drysdale JW (1985) Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones. J Biol Chem 260:11755–11761
Butler N, Claireaux AE (1962) Congenital diaphragmatic hernia as a cause of perinatal mortality. Lancet I:659–663
Butler MG, Meaney FJ, Palmer CG (1986) Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 23:793–809
Chirgwin JM, Schaefer IM, Rotwin PS, Piccini N, Gross KW, Naylor SL (1984) Human renin gene is on chromosome 1. Somatic Cell Mol Genet 10:415–421
Cragg SJ, Drysdale J, Worwood M (1985) Genes for the “H” subunit of human ferritin are present on a number of human chromosomes. Hum Genet 71:108–112
Crane JP (1979) Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families. Clin Genet 16:244–252
David TJ, Illingworth CA (1976) Diaphragmatic hernia in the southwest of England. J Med Genet 13:253–262
David TJ, Parker VM, Illingworth CA (1980) Diaphragmatic hernia in Avon. J Med Genet 17:135
Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, Barranger JA (1985) Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci USA 82:7101–7105
Green L, Van Antwerpen R, Stein J, Stein C, Tripputi P, Selden J, Croce C (1984) A major human gene cluster on the long arm of chromosome 1. Science 226:838–840
Hobart PM, Fogliano M, O'Connor BA, Schaefer IM, Chirgwin JM (1984) Human renin gene: structure and sequence analysis. Proc Natl Acad Sci USA 81:5026–5030
Huebner K, Palumbo AP, Isobe M, Kozak CA, Monaco S, Rovera G, Croce C, Curtis PG (1985) The alpha-spectrin gene is on chromosome 1 in mouse and man. Proc Natl Acad Sci USA 82:3790–3793
Jabs EW, Wolf SF, Migeon BR (1984) Characterization of reiterated human DNA with respect to mammalian X chromosome homology. Somatic Cell Mol Genet 10:93–103
Jackson TM (1967) Congenital diaphragmatic hernia. Arch Surg 95: 102–110
LeBeau MM (1986) Chromosomal fragile sites and cancer-specific rearrangements. Blood 67:849–858
McCredie J, Reid JS (1978) Congenital diaphragmatic hernia associated with homolateral upper limb malformation: a study of possible pathogenesis in four cases. J Pediatr 92:762–765
McGill JR, Naylor SL, Sakaguchi AY, Moore CM, Boyd D, Barrett KJ, Shows TB, Drysdale JW (1987) Human ferritin H and L sequences lie on ten different chromosomes. Hum Genet 76:66–72
Nielsen T, Sillesen I (1975) Incidence of chromosome aberration among 11,148 newborn children. Hum Genet 30:1–12
Pai GG, Thomas GH (1980) A new R-banding technique in clinical cytogenetics. Hum Genet 54:41–45
Philip N, Mattei MG, Baeteman MA, Pellissier MC, Mattei JF (1985) Precise localization of beta-glucosidase to band q31 of chromosome 1. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:723
Schinzel A (1984) Chromosome 1. In: Schinzel A (ed) Catalogue of unbalanced chromosome aberrations in man. de Gruyter, Berlin, pp 71–101
Sierra F, Lichtler A, Marashi F, Rickles R, Van Dyke T, Clark S, Wells J, Stein G, Stein J (1982) Organization of human histone genes. Proc Natl Acad Sci USA 79:1795–1799
Vogel F, Motulsky AG (1982) Human genetics — problem and approaches, 2nd edn. Springer, Berlin Heidelberg New York, pp 282–370
Wolff S (1980) Familial congenital diaphragmatic defect: review and conclusions. Hum Genet 54:1–5
Youssoufian H, Kazazian HH Jr, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE (1986) Recurrent mutations in hemophilia A give evidence for CpG mutation hotspots. Nature 324: 380–382
Yunis JJ, Chandler ME (1977) High resolution chromosome analysis in clinical medicine. In: Stefanini M, Hossaini A (eds) Progress in clinical pathology, vol 7. Grune & Stratton, New York, pp 267–288
Yunis JJ, Sawyer JR, Ball DW (1978) The characterization of highresolution G-banded chromosomes in man. Chromosoma 67:293–307
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Youssoufian, H., Chance, P., Tuck-Muller, C.M. et al. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Hum Genet 78, 267–270 (1988). https://doi.org/10.1007/BF00291674
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00291674