Pregled bibliografske jedinice broj: 810585
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25 -> q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25 -> q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation // Journal of medical genetics, 34 (1997), 8; 1012-1014 doi:10.1136/jmg.34.12.1012 (podatak o recenziji nije dostupan, članak, ostalo)
CROSBI ID: 810585 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25 -> q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation
Autori
Schinzel, A. ; Brečević, Lukrecija ; Dutly, F. ; Baumer, A. ; Binkert, F. ; Largo, RH.
Izvornik
Journal of medical genetics (0022-2593) 34
(1997), 8;
1012-1014
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo
Ključne riječi
Rieger eye anomaly ; interstitial deletion (4)(q25 -> q27)
Sažetak
A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-- >q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46, XY, ins (6 ; 4) (q26 ; q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus. This finding and the normal ocular findings in the insertion carrier father show that haplotype insufficiency can cause the Rieger eye malformation.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
