{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:53Z","timestamp":1760906933226,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,4]]},"abstract":"<jats:p>We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.<\/jats:p>","DOI":"10.1136\/jmg.14.2.144","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"144-147","source":"Crossref","is-referenced-by-count":21,"title":["A partial long arm deletion of chromosome 7:46,XY,del(7)(q32)."],"prefix":"10.1136","volume":"14","author":[{"given":"B G","family":"Kousseff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L Y","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Paciuc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1399-0004.1975.tb01498.x","article-title":"A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities","volume":"8","author":"Hamerton, J.L.; Canning, N.; Ray, M.; Smith, S.","year":"1975","unstructured":"Hamerton, J. L., Canning, N., Ray, M., and Smith, S. (1975). A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clinical Genetics, 8, 223-243.","journal-title":"Clinical Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/249164a0","article-title":"Correlation between euploid structural chromosome rearrangements and mental subnormality in humans","volume":"249","author":"Jacobs, P.A.","year":"1974","unstructured":"Jacobs, P. A. (1974). Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature, 249, 164-165.","journal-title":"Nature"},{"key":"ref_3","first-page":"117","article-title":"De novo occurrence of 46, XX, t (4; 13)(q31; ql4) in a mentally retarded girl","volume":"18","author":"Jenkins, E.C.; Curcuru-Giordano, F.M.; Krishna, S.G.; Cantrarella, J.","year":"1975","unstructured":"Jenkins, E. C., Curcuru-Giordano, F. M., Krishna, S. G., and Cantrarella, J. (1975). De novo occurrence of 46,XX,t (4;13)(q31;ql4) in a mentally retarded girl. Annales de Genetique, 18, 117-120.","journal-title":"Annales de Genetique"},{"key":"ref_4","first-page":"\"9","article-title":"Prenatal diagnosis of chromosome disorders","volume":"32","author":"Laurence, K.M.; Gregory, P.","year":"1976","unstructured":"Laurence, K. M., and Gregory, P. (1976). Prenatal diagnosis of chromosome disorders. British Medical Bulletin, 32, 9-15. Paris Conference (1971), Supplement (1975): Standardization in Human Cytogenetics. Birth Defects: Original Article Series, XI, 9, 1975. The National Foundation, New York. Seabright, M. (1971). A rapid banding technique for human chromosome. Lancet, 2, 971-972.","journal-title":"British Medical Bulletin; Standardization in Human Cytogenetics. Birth Defects: Original Article Series, XI"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/newbio232031a0","article-title":"New technique for distinguishing between human chromosomes","volume":"232","author":"Sumner, A.T.; Evans, H.J.; Buckland, R.A.","year":"1971","unstructured":"Sumner, A. T., Evans, H. J., and Buckland, R. A. (1971). New technique for distinguishing between human chromosomes. Nature (New Biology), 232, 31-32.","journal-title":"Nature (New Biology)"},{"key":"ref_6","unstructured":"With the development of the various new banding techniques, cytogenetic diagnosis of different types of chromosome deletions as well as clinical recognition of these deletion syndromes have become possible. With G-, R-, and Q-banding methods (Paris Conference, 1972), we have identified a partial deletion of the long arm of a No. 7 chromosome in a newborn male infant with multiple congenital anomalies.","article-title":"With the development of the various new banding techniques, cytogenetic diagnosis of different types of chromosome deletions as well as clinical recognition of these deletion syndromes have become possible. With G-, R-, and Q-banding methods (Paris Conference, 1972), we have identified a partial deletion of the long arm of a No. 7 chromosome in a newborn male infant with multiple congenital anomalies"},{"key":"ref_7","article-title":"tardation and severe failure to thrive. His congenital Migeon","volume-title":"Distinct from this anomalies were microcephaly, bradycephaly, cleft functional aspect is the question of the relation lip and palate, and flat nose","author":"month-old white male. He had psychomotor re-Neu","year":"1967","unstructured":"-month-old white male. He had psychomotor re-Neu et al., 1966; Jagiello and Faiman, 1967; tardation and severe failure to thrive. His congenital Migeon, 1965; Shaw, 1962). Distinct from this anomalies were microcephaly, bradycephaly, cleft functional aspect is the question of the relation lip and palate, and flat nose."},{"key":"ref_8","article-title":"Thus far, patients with 7qshare only a few disjunction, a relation which might be inferred to features in common, i.e. mental and growth reexist in families in which a minor rearrangement and tardation and microcephaly. Hopefully, when more aneuploidy occur together (Neu","year":"1966","unstructured":"Thus far, patients with 7qshare only a few disjunction, a relation which might be inferred to features in common, i.e. mental and growth reexist in families in which a minor rearrangement and tardation and microcephaly. Hopefully, when more aneuploidy occur together (Neu et al., 1966; Shaw, patients with 7q - are identified, a better clinical 1962; Starkman and Shaw, 1967).","journal-title":"et al; Shaw, patients with 7q - are identified, a better clinical 1962; Starkman and Shaw"},{"key":"ref_9","article-title":"Sinai School of Medicine, genetic and clinical significance of such variants is","volume-title":"USA likely to remain obscure until enough cases are reported for statistical inferences to be made about References possible predispositions. This report describes a Paris Conference 1971 (1972). Standardization in Human family in which both clinical abnormalities and Cytogenetics. Birth Defects Original Article Series, Vol. aneuploidy are associated with a chromosomal","author":"Genetics, Mount","year":"1002","unstructured":"Genetics, Mount Sinai School of Medicine, genetic and clinical significance of such variants is New York, New York 10029, USA likely to remain obscure until enough cases are reported for statistical inferences to be made about References possible predispositions. This report describes a Paris Conference 1971 (1972). Standardization in Human family in which both clinical abnormalities and Cytogenetics. Birth Defects Original Article Series, Vol. aneuploidy are associated with a chromosomal"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/j.1399-0004.1973.tb01932.x","article-title":"Deletion of the long arm of chromosome No. 7. Tentative assignment of the Kidd (JK) locus","volume":"4","author":"Shokeir, M.H.K.; Ying, K.L.; Pabello, P.","year":"1973","unstructured":"Shokeir, M. H. K., Ying, K. L., and Pabello, P. (1973). Deletion of the long arm of chromosome No. 7. Tentative assignment of the Kidd (JK) locus. Clinical Genetics, 4, 360-368.","journal-title":"Clinical Genetics"},{"key":"ref_11","first-page":"40","article-title":"Ring chromosome 7 with variable phenotypic expression. Cytogenetics and Cell A boy aged 6 years 9 months and unable to read was","volume":"12","author":"Zackai, E.H.; Breg, W.R.","year":"1973","unstructured":"Zackai, E. H., and Breg, W. R. (1973). Ring chromosome 7 with variable phenotypic expression. Cytogenetics and Cell A boy aged 6 years 9 months and unable to read was Genetics, 12, 40-48.","journal-title":"Genetics"},{"article-title":"He was the second sibling","author":"Zealand, in 1969","key":"ref_12","unstructured":"Zealand, in 1969. He was the second sibling of Dutch"},{"key":"ref_13","article-title":"There are a number of reports of heritable structural chromosome (Fig. 3). Like the index case, both variations of the chromosomes being associated withshowed mild clinodactyly of the fifth fingers. The in families with both normal and abnormal phenofather's karyotype was normal as was that of a types (Gardner","year":"1974","unstructured":"There are a number of reports of heritable structural chromosome (Fig. 3). Like the index case, both variations of the chromosomes being associated withshowed mild clinodactyly of the fifth fingers. The in families with both normal and abnormal phenofather's karyotype was normal as was that of a types (Gardner et al., 1974; Neu and Kajii, 1969), younger female sibling. The mother's second pregincluding familial variants affecting the short arms of nancy ended in a miscarriage at 11 weeks.","journal-title":"et al; Neu and Kajii, 1969), younger female sibling. The mother's second pregincluding familial variants affecting the short arms of nancy ended in a miscarriage at 11 weeks"},{"article-title":"1969; There were no indications of consanguinity but a","author":"the G group chromosomes (Neu; Kajii","key":"ref_14","unstructured":"the G group chromosomes (Neu and Kajii, 1969; There were no indications of consanguinity but a"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.2.144","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:00:38Z","timestamp":1760720438000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.2.144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,4]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1977,4,1]]},"published-print":{"date-parts":[[1977,4]]}},"alternative-id":["10.1136\/jmg.14.2.144"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.2.144","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,4]]}}}