| Autor: |
Lurie IW; Byelorussian Institute for Hereditary Diseases, Minsk, USSR., Ilyina HG, Podleschuk LV, Gorelik LB, Zaletajev DV |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1990 Feb; Vol. 35 (2), pp. 286-8. |
| DOI: |
10.1002/ajmg.1320350229 |
| Abstrakt: |
At least nine cases of holoprosencephaly (HPE) found in patients with confirmed loss of 7q34----7qter or 7q36----7qter have been reported in the literature. In the present report, balanced rearrangements involving chromosome 7q [inv(7)(p22.1q34) and t(4;7)(q31;q36)] were shown in two mothers examined after the birth of their non-karyotyped infants with HPE and hydronephrosis. In both cases, del(7q) was the most probable imbalance. The available data confirm the association between HPE and del(7q). Predominance of cyclopia and cebocephaly, the severest forms of HPE, suggests that del(7q) may be an important factor in arresting prosencephalon development at the earliest stages. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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