Trisomy 4p: five new observations and overview.
Clin Genet
; 12(6): 344-56, 1977 Dec.
Article
in En
| MEDLINE
| ID: mdl-563312
ABSTRACT
Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Trisomy
/
Chromosomes, Human, 4-5
Limits:
Female
/
Humans
/
Infant
/
Male
/
Pregnancy
Language:
En
Journal:
Clin Genet
Year:
1977
Document type:
Article
Publication country:
DENMARK
/
DINAMARCA
/
DK