Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination
Journal of Genetic Medicine
; : 1-6, 1998.
Article
de En
| WPRIM
| ID: wpr-29099
Bibliothèque responsable:
WPRO
ABSTRACT
A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of repeated lymphocyte cultures during 1984-1992. The propositus has exhibited chromosomal mosaicism both hypoploid (42+/-1) and hyperploid (48+/-2 chromosome) counts, but the major stem line presented 46XX chromosomes. Ring chromosome with simple and complex translocations with marker dots appear to be the major cytogenetic assemblage of this child to posses unequal left and right halves of the body. Each and every organ from toe to the head has grown up unequally and lately the patient had been exhibiting different dark and light shapes of melanin on the skin. We believe that the patient had inherited, through her male parent, "a few" mutated loci on some chromosomes so as to generate different cell lines within the developing child. All sibs and the mother showed normal karyotype with no apparent aberration.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Parents
/
Chromosomes en anneau
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Peau
/
Lymphocytes
/
Orteils
/
Lignée cellulaire
/
Études longitudinales
/
Hypopigmentation
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Cytogénétique
/
Caryotype
Type d'étude:
Observational_studies
Limites du sujet:
Child
/
Female
/
Humans
/
Male
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
1998
Type:
Article