{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:41:31Z","timestamp":1760740891341,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,12]]},"abstract":"<jats:p>A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.<\/jats:p>","DOI":"10.1136\/jmg.19.6.473","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"473-476","source":"Crossref","is-referenced-by-count":20,"title":["Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32)."],"prefix":"10.1136","volume":"19","author":[{"given":"D N","family":"Abuelo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Padre-Mendoza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,12,1]]},"reference":[{"issue":"7","key":"ref_1","first-page":"307","article-title":"Ear malformations were mentioned in all patients, but were of differing morphology. All were thought to have mental retardation. Other neurological Higginson","volume":"7","author":"G, Weaver D.D.","year":"1976","unstructured":"Ear malformations were mentioned in all patients, but were of differing morphology. All were thought to have mental retardation. Other neurological Higginson G, Weaver DD, Magenis RE, et al. Interstitial deletion of the long arm of chromosome no 7 (7q-) in an infant with multiple anomalies. Clin Genet 1976;10:307-12.","journal-title":"Clin Genet; Interstitial deletion of the long arm of chromosome no"},{"key":"ref_2","first-page":"265","article-title":"Deletion interstitielle du bras long d'un chromosome 7 chez une enfant leprechaune","volume":"19","author":"Ayraud, N.; Rovinski, J.; Lambert, A.G.","year":"1976","unstructured":"Ayraud N, Rovinski J, Lambert AG, et al. Deletion interstitielle du bras long d'un chromosome 7 chez une enfant leprechaune. Ann Genet (Paris) 1976;19:265-7.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","first-page":"345","article-title":"Interstitial deletion of long arm of chromosome 7, 46, are no normal values available at present for mouth size during childhood, so that the impression of a relatively large mouth is a subjective one. It is, however, an unusual finding in chromosomal XX","volume":"44","author":"Franceschini, P.; Cirillo Silengo, M.; Davi, G.F.","year":"2200","unstructured":"Franceschini P, Cirillo Silengo M, Davi GF, et al. Interstitial deletion of long arm of chromosome 7, 46, are no normal values available at present for mouth size during childhood, so that the impression of a relatively large mouth is a subjective one. It is, however, an unusual finding in chromosomal XX, del (7) (pter --.q2200::q3200 -> qter). Hum Genet 1978;44:345-8.","journal-title":"Hum Genet; qter"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/BF00279044","article-title":"Interstitial deletion of the long arm of chromosome 7","volume":"54","author":"Serup, L.","year":"1980","unstructured":"Serup L. Interstitial deletion of the long arm of chromosome 7. Hum Genet 1980;54:19-23.","journal-title":"Hum Genet"},{"article-title":"Partial monosomy 7q syndrome due to distal interstitial deletion. Hum Genet 1981; 57: was present in our case and one other5 which suggests either a structural anomaly of the larynx or poor co-ordination of the laryngeal musculature, or both. The chromosomal breakpoints in these four cases were not identical, but the involvement of q31 was common to all, suggesting that the unusual cry might be correlated with the q31 segment. The 210-3","author":"Stallard, R.; Juberg, R.C.","key":"ref_5","unstructured":"Stallard R, Juberg RC. Partial monosomy 7q syndrome due to distal interstitial deletion. Hum Genet 1981;57: was present in our case and one other5 which suggests either a structural anomaly of the larynx or poor co-ordination of the laryngeal musculature, or both. The chromosomal breakpoints in these four cases were not identical, but the involvement of q31 was common to all, suggesting that the unusual cry might be correlated with the q31 segment. The 210-3."},{"key":"ref_6","first-page":"227","article-title":"The cri-du-chat syndrome. Epidemiology, cytogenetics and clinical features","volume":"44","author":"Niebuhr, E.","year":"1978","unstructured":"Niebuhr E. The cri-du-chat syndrome. Epidemiology, cytogenetics and clinical features. Hum Genet 1978;44: 227-75.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.6.473","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:24:07Z","timestamp":1760739847000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.6.473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,12]]},"references-count":6,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1982,12,1]]},"published-print":{"date-parts":[[1982,12]]}},"alternative-id":["10.1136\/jmg.19.6.473"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.6.473","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,12]]}}}