{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:15:02Z","timestamp":1760832902548,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,12]]},"abstract":"<jats:p>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--&gt;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.<\/jats:p>","DOI":"10.1136\/jmg.34.12.1012","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1012-1014","source":"Crossref","is-referenced-by-count":14,"title":["Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25--&gt;q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Brecevic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Dutly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Baumer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Binkert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R H","family":"Largo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1111\/j.1399-0004.1981.tb01042.x","article-title":"Interstitial deletion 4q and Rieger syndrome","volume":"20","author":"Ligutic, I.; Brecevic, L.; Petkovic, I.; Kalogiera, T.; Rajic, Z.","year":"1981","unstructured":"Ligutic I, Brecevic L, Petkovic I, Kalogiera T, Rajic Z. 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Beitrage zur Kenntnis seltener Missbildungen der Iris:uber Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Graefes Arch Clin Exp Ophthalmol 1935;133:602-35.","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"ref_8","article-title":"Dysgenesis mesodermalis of the iris and cornea: a study of Rieger's syndrome and Peter's anomaly","author":"Alkemade, P.P.H.","year":"1969","unstructured":"Alkemade PPH. Dysgenesis mesodermalis of the iris and cornea: a study of Rieger's syndrome and Peter's anomaly. Assen,The Netherlands: Van Gorcum, 1969."},{"key":"ref_9","article-title":"Human cytogenetics database. Oxford Medical Databases Series","author":"Schinzel, A.","year":"1994","unstructured":"Schinzel A. Human cytogenetics database. Oxford Medical Databases Series. 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Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;ql 5) and a deletion del(4)(q25q27) both break between markers D4S945 and D4S193. JMed Genet 1997;34:191-5.","journal-title":"JMed Genet"},{"key":"ref_12","first-page":"549","article-title":"Interstitial deletion of the long arm of chromosome 4","volume":"31","author":"Chudley, A.E.; Verma, M.R.; Ray, M.; Riordan, D.","year":"1988","unstructured":"Chudley AE, Verma MR, Ray M, Riordan D. Interstitial deletion of the long arm of chromosome 4. 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