A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.

A family with three sibs carrying trisomy 21 / F. Nuzzo, M. Stefanini, G. Simoni, L. Larizza, A. Mottura, E. Reali, P. Franceschini. - In: ANNALES DE GENETIQUE. - ISSN 0003-3995. - 18:2(1975 May), pp. 111-6-116.

A family with three sibs carrying trisomy 21

G. Simoni;L. Larizza;
1975-05

Abstract

A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.
Karyotyping; Pedigree; Age Factors; Humans; Diseases in Twins; Trisomy; Dermatoglyphics; Blood Group Antigens; Infant; Mosaicism; Chromosomes, Human, 21-22 and Y; Down Syndrome; Male
Settore MED/03 - Genetica Medica
Article (author)
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/181594
Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 12
social impact