A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion

É Morava, O. Bartsch, M. Czako, A. Frensel, J. Kárteszi, G. Kosztolányi

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion: Ring chromosome 15 [r(15)] syndrome is characterised by specific facial features, café au lait spots, failure to thrive, mental retardation and typically with a terminal deletion of the long arm of chromosome 15. We report a 2.5 year old girl showing normal growth and development, large hyperpigmented skin changes showing hypopigmentated areas inside, multiple café au lait spots and premature graying-like hypopigmentation of scalp hair. She had a karyotype of r(15) in peripheral lymphocytes and fibroblasts. By FISH analysis the breakpoint was located distal to locus D15S936 (15q26.3) and within 300 kb of the end of the chromosome, indicating no deletion of functional genes on 15q. Hyperpigmentation and café au lait spots are rare signs in ring chromosome syndromes, but with r(15) syndrome, café au lait spots have been described in about 30% of patients and have been considered to result from the deletion of gene(s) on distal 15q. Based on the frequent observation of patchy hyperpigmentation with the r(15) syndrome, absent hyperpigmentation in cases of distal 15q deletion without a ring chromosome, and the telomeric breakpoint location in our patient indicating no significant deletion, we propose that the cutaneous hyperpigmentation and café au lait spots in our proband represent effects of the r(15) chromosome but are not caused by the deletion of specific gene(s) on distal 15q. Patchy skin hypopigmentation is a well known nonspecific sign in cytogenetic mosaicism which is commonly seen in ring syndrome.

Original languageEnglish
Pages (from-to)337-342
Number of pages6
JournalGenetic Counseling
Volume14
Issue number3
Publication statusPublished - 2003

Fingerprint

Hyperpigmentation
Gene Deletion
Skin
Ring Chromosomes
Hypopigmentation
Chromosomes, Human, Pair 15
Chromosome Breakpoints
Failure to Thrive
Mosaicism
Scalp
Karyotype
Growth and Development
Cytogenetics
Intellectual Disability
Hair
Fibroblasts
Chromosomes
Observation
Chromosome 15 ring
Lymphocytes

Keywords

  • Café au lait spots
  • Normal development.
  • Ring chromosome 15

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion. / Morava, É; Bartsch, O.; Czako, M.; Frensel, A.; Kárteszi, J.; Kosztolányi, G.

In: Genetic Counseling, Vol. 14, No. 3, 2003, p. 337-342.

Research output: Contribution to journalArticle

Morava, É, Bartsch, O, Czako, M, Frensel, A, Kárteszi, J & Kosztolányi, G 2003, 'A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion', Genetic Counseling, vol. 14, no. 3, pp. 337-342.
Morava, É ; Bartsch, O. ; Czako, M. ; Frensel, A. ; Kárteszi, J. ; Kosztolányi, G. / A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion. In: Genetic Counseling. 2003 ; Vol. 14, No. 3. pp. 337-342.
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