Incontinentia pigmenti in a newborn male infant with DNA confirmation

American Journal of Medical Genetics

Volumn 75, Issue 2, 1998, Pages 159-163

  Roberts, Jaclyn Landau ^a,b   Morrow, Bernice ^a   Vega Rich, Carlos ^a   Salafia, Carolyn M ^a   Nitowsky, Harold M ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

DNA analysis; Immune disturbance; Incontinentia pigmenti; Inflammation; Male offspring; Neonatal demise; X inactivation studies

Indexed keywords

ARTICLE; CASE REPORT; DNA DETERMINATION; HEMATOPOIESIS; HUMAN; INCONTINENTIA PIGMENTI; LETHALITY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME;

ADULT; ALLELES; DNA; DOSAGE COMPENSATION, GENETIC; FEMALE; HUMANS; INCONTINENTIA PIGMENTI; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; SEQUENCE ANALYSIS, DNA; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0031973510     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980113)75:2<159::AID-AJMG7>3.0.CO;2-O     Document Type: Article

References (32)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992): Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Carney RG (1976): Incontinentia pigmenti: A world statistical analysis. Arch Dermatol 112:535-542.
3. Freije D, Helms C, Watson MS, Donis-Keller H (1992): Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 258:1784-1787.
4. García-Dorado J, De Unamuno P, Fernández-López E, Salazar Veloz J, Armijo M (1990): Incontinentia pigmenti: XXY male with a family history. Clin Genet 38:128-138.
5. Gartler SM, Francke U (1975): Half chromatid mutations: Transmission in humans. Am J Hum Genet 27:218-223.
6. Garza J, Miller ME (1992): Cystic hygroma as a probable feature in male fetuses with incontinentia pigmenti. Am J Hum Genet Suppl 51:A256.
7. Happle R (1985): Lyonization and the lines of Blaschko. Hum Genet 70: 200-206.
8. Hatchwell E (1996): Unstable mutation in incontinentia pigmenti? J Med Genet 33:349-350.
9. Hecht F, Hecht BK, Austin WJ (1982): Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model. Clin Genet 21:293-296.
10. Honig PJ, Miller ME (1972): Incontinentia pigmenti: A possible immunologic disorder. J Pediatr 80:334-336.
11. Jessen RT, Van Epps DE, Goodwin JS, Bowerman J (1978): Incontinentia pigmenti: evidence for both neutrophil and lymphocyte dysfunction. Arch Dermatol 114:1182-1186.
12. Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE (1995): Gonadal mosaicism for incontinentia pigmenti in a healthy male. J Med Genet 32:887-890.
13. Korf BR (1996): "Human Genetics: A problem based approach." New York: Blackwell Science, p 165.
14. Kurczynski TW, Berns JS, Johnson WE (1982): Studies of a family with incontinentia pigmenti variably expressed in both sexes. J Med Genet 19:447-451.
15. Lalloz M, McVey J, Pattinson J, Tuddenham E (1991): Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 338:207-211.
16. Landy SJ, Donnai D (1993): Incontinentia pigmenti (Block-Sulzberger syndrome). J Med Genet 30:53-59.
17. Langenbeck U (1982): Transmission of incontinentia pigmenti from mother to son is consistent with a half chromatid back-mutation (reversion) model. Clin Genet 22:290-291.
18. Lenz W (1975): Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet 27:690-691.
19. Lenz W, Ullrich E, Witkowski R, Opitz C (1982): Unilateral incontinentia pigmenti in a male patient. Pädiatr Padol 17:187-199.
20. Mascaro JM, Palou J, Vives P (1985): Painful subungual keratotic tumors in incontinentia pigmenti. J Am Acad Dermatol 13:913-918.
21. OMIM (TM) (1994): Online Mendelian Inheritance in Man. Johns Hopkins University, Baltimore, MD. MIM Number: 308300:1994: World Wide Web URL: http://www3.ncbi.nlm.nih.gov/omim/.
22. Migeon BR, Axelman J, Jan de Beur S, Valle D, Mitchell GA, Rosenbaum, KN (1989): Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet 44:100-106.
23. Munné S, Alonso ML, Grifo J (1996): Case Report: Unusualy high rates of aneuploid embryos in a 28-year old woman with incontinentia pigmenti. Cytogenet Cell Genet 72:43-45.
24. Parrish JE, Scheuerle A, Lewis RA, Levi MI, Nelson DL (1996): Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum Molec Genet 5:1777-1783.
25. Pfau A, Landthaler M (1995): Recurrent inflammation in incontinentia pigmenti of a seven-year-old child. Dermatol 191:161-163.
26. Prendiville JS, Gorski JL, Stein CK, Esterly NB (1989): Incontinentia pigmenti in a male infant with Klinefelter syndrome. J Am Acad Dermatol 20:937-940.
27. Smahi H, Hyden-Granskog C, Peterlin B, Vabres P, Heuertz S, Fulchignoni-Lataud MC, Dahl N, Labrune P, Le Marec B, Piussan C, Taieb A, von Koskull H, Hors-Cayla MC (1994): The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Molec Genet 3:273-278.
28. Traupe H, Vehring KH (1994): Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males. Am J Med Genet 49:397-398.
29. Turnpenny PD, Gunasegaran R, Smith NC, Dean JC (1992): Recurrent miscarriage, cystic hygroma and incontinentia pigmenti. Br J Obstet Gynecology 99:920-921.
30. Wehnert M, Reiner O, Caskey CT (1993): Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134. Hum Molec Genet 2: 1503.
31. Wettke-Schafer R, Kantner G (1983): X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet 64:1-23.
32. Wieacker P, Zimmer J, Ropers H (1985): X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clin Genet 28:238-242.