• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. Sep 1994; 31(9): 694–701.
PMCID: PMC1050079

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.


We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases, in one an unusual transverse terminal limb anomaly, and in the others various degrees of hemiatrophy of the left side of the body. Five of the subjects had skin pigmentary anomalies which were distributed in the lines of Blaschko. The abnormal cell lines found were ring chromosome 22, trisomy 22, a large acrocentric marker, a deletion of 18q, a deletion of 8q, and triploidy. In four cases the clinical diagnosis was only confirmed by skin biopsy. In one case low level mosaicism in blood was fortuitously detected because of cytogenetic fragile X screening and confirmed in a skin biopsy. The sixth case was of dynamic mosaicism of a non-mosaic deletion 18q with a chromosome 18 derived marker present in a proportion of cells. Chromosome mosaicisn may cause subtle and asymmetrical clinical features and can require repeated cytogenetic investigations. The diagnosis should be actively sought as it enables accurate genetic counselling to be given.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (2.6M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Bui TH, Iselius L, Lindsten J. European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn. 1984 Spring;4(Spec No):145–162. [PubMed]
  • Hsu LY, Perlis TE. United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn. 1984 Spring;4(Spec No):97–130. [PubMed]
  • Worton RG, Stern R. A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn. 1984 Spring;4(Spec No):131–144. [PubMed]
  • Antonarakis SE. Human chromosome 21: genome mapping and exploration, circa 1993. Trends Genet. 1993 Apr;9(4):142–148. [PubMed]
  • Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr. 1990 Apr;116(4):581–586. [PubMed]
  • Ritter CL, Steele MW, Wenger SL, Cohen BA. Chromosome mosaicism in hypomelanosis of Ito. Am J Med Genet. 1990 Jan;35(1):14–17. [PubMed]
  • Takematsu H, Sato S, Igarashi M, Seiji M. Incontinentia pigmenti achromians (Ito). Arch Dermatol. 1983 May;119(5):391–395. [PubMed]
  • Ritter CL, Steele MW, Wenger SL, Cohen BA. Chromosome mosaicism in hypomelanosis of Ito. Am J Med Genet. 1990 Jan;35(1):14–17. [PubMed]
  • Bühler EM, Bühler UK, Beutler C, Fessler R. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet. 1987 Apr;31(4):273–275. [PubMed]
  • Graham JM, Jr, Hoehn H, Lin MS, Smith DW. Diploid-triploid mixoploidy: clinical and cytogenetic aspects. Pediatrics. 1981 Jul;68(1):23–28. [PubMed]
  • Hunter AG, Clifford B, Cox DM. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet. 1985 Jul;28(1):47–53. [PubMed]
  • Johnson VP, Aceto T, Jr, Likness C. Trisomy 14 mosaicism: case report and review. Am J Med Genet. 1979;3(4):331–339. [PubMed]
  • Miller CA, Parker WD., Jr Hypomelanosis of Ito: association with a chromosomal abnormality. Neurology. 1985 Apr;35(4):607–610. [PubMed]
  • Grazia R, Tullini A, Rossi PG, Neri I, Patrizi A, Croci G, Manenti E, Gobbi G. Hypomelanosis of Ito with trisomy 18 mosaicism. Am J Med Genet. 1993 Jan 1;45(1):120–121. [PubMed]
  • Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: spectrum of the disease. J Pediatr. 1989 Jul;115(1):75–80. [PubMed]
  • Wulfsberg EA, Wassel WC, Polo CA. Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia. Clin Genet. 1991 May;39(5):370–375. [PubMed]
  • Papenhausen PR, Mueller OT, Bercu B, Salazar J, Tedesco TA. Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth. Clin Genet. 1991 Sep;40(3):237–241. [PubMed]
  • Thomas IT, Frias JL, Cantu ES, Lafer CZ, Flannery DB, Graham JG., Jr Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet. 1989 Aug;45(2):193–205. [PMC free article] [PubMed]
  • Vormittag W, Ensinger C, Raff M. Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). Clin Genet. 1992 Jun;41(6):309–314. [PubMed]
  • Kelly TE, Rary JM. Mosaic tetraploidy in a two-year-old female. Clin Genet. 1974;6(3):221–224. [PubMed]
  • Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet. 1993 Jun;30(6):482–486. [PMC free article] [PubMed]
  • Donnai D, McKeown C, Andrews T, Read AP. Diploid/triploid mixoploidy and hypomelanosis of Ito. Lancet. 1986 Jun 21;1(8495):1443–1444. [PubMed]
  • Stanley WS, Powell CM, Devine GC, Ellingham T, Samango-Sprouse CA, Vaught DR, Murphy BA, Rosenbaum KN. Mosaic 5p tetrasomy. Am J Med Genet. 1993 Mar 15;45(6):774–776. [PubMed]
  • Turleau C, Taillard F, Doussau de Bazignan M, Delépine N, Desbois JC, de Grouchy J. Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet. 1986 Oct;74(2):185–187. [PubMed]
  • Schwartz MF, Jr, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. J Pediatr. 1977 Feb;90(2):236–240. [PubMed]
  • Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993 Jan;30(1):53–59. [PMC free article] [PubMed]
  • Gorlin RJ. Second Robert J Gorlin Conference on Human Dysmorphology, Minneapolis, USA. 7-9 November 1992. Clin Dysmorphol. 1993 Jul;2(3):278–282. [PubMed]
  • Moss C, Larkins S, Stacey M, Blight A, Farndon PA, Davison EV. Epidermal mosaicism and Blaschko's lines. J Med Genet. 1993 Sep;30(9):752–755. [PMC free article] [PubMed]
  • Jenkins D, Martin K, Young ID. Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. J Med Genet. 1993 Sep;30(9):783–784. [PMC free article] [PubMed]
  • Jackson R. The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin. Br J Dermatol. 1976 Oct;95(4):349–360. [PubMed]
  • Happle R. Lyonization and the lines of Blaschko. Hum Genet. 1985;70(3):200–206. [PubMed]
  • Chitayat D, Friedman JM, Johnston MM. Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. Am J Med Genet. 1990 Mar;35(3):422–424. [PubMed]
  • Akefeldt A, Gillberg C. Hypomelanosis of Ito in three cases with autism and autistic-like conditions. Dev Med Child Neurol. 1991 Aug;33(8):737–743. [PubMed]
  • Miller CA, Parker WD., Jr Hypomelanosis of Ito: association with a chromosomal abnormality. Neurology. 1985 Apr;35(4):607–610. [PubMed]
  • Iancu T, Komlos L, Shabtay F, Elian E, Halbrecht L, Bök JA. Incontinentia pigmenti. Clin Genet. 1975 Feb;7(2):103–110. [PubMed]
  • Tolmie JL, Boyd E, Batstone P, Ferguson-Smith ME, al Roomi L, Connor JM. Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant? Hum Genet. 1988 Oct;80(2):197–200. [PubMed]
  • Miller K, Müller W, Winkler L, Hadam MR, Ehrich JH, Flatz SD. Mitotic disturbance associated with mosaic aneuploidies. Hum Genet. 1990 Mar;84(4):361–364. [PubMed]
  • Kingston HM, Nicolini U, Haslam J, Andrews T. 46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype. Prenat Diagn. 1993 Jul;13(7):637–642. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • Cited in Books
    Cited in Books
    PubMed Central articles cited in books
  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...