{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:14:54Z","timestamp":1760832894304,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,10]]},"abstract":"<jats:p>A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.<\/jats:p>","DOI":"10.1136\/jmg.19.5.377","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"377-380","source":"Crossref","is-referenced-by-count":18,"title":["Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation."],"prefix":"10.1136","volume":"19","author":[{"given":"P E","family":"Podruch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F S","family":"Yen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N D","family":"Dinno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Weisskopf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1136\/jmg.11.2.208","article-title":"Deletion of the long arms of the Y chromosome with normal male development and intelligence","volume":"11","author":"Langmaid, H.; Laurence, K.M.","year":"1974","unstructured":"Langmaid H, Laurence KM. Deletion of the long arms of the Y chromosome with normal male development and intelligence. J Med Genet 1974;11:208-1 1.","journal-title":"J Med Genet"},{"issue":"12","key":"ref_2","first-page":"262","article-title":"Constancy of the length of the human Y chromosome","volume":"1969","author":"Borgaonkar, D.S.; McKusick, V.A.; Herr, H.M.; de los Cobos, L.; Yoder, O.C.","unstructured":"Borgaonkar DS, McKusick VA, Herr HM, de los Cobos L, Yoder OC. Constancy of the length of the human Y chromosome. Ann Genet (Paris) 1969;12:262-4.","journal-title":"Ann Genet (Paris)"},{"issue":"1","key":"ref_3","first-page":"17","article-title":"Yq deletion, aspermia, and short stature","volume":"39","author":"Yunis, E.; Garcia-Conti, F.L.; de Cabalerro, O.M.T.; Giraldo, A.","year":"1977","unstructured":"Yunis E, Garcia-Conti FL, de Cabalerro OMT, Giraldo A. Yq deletion, aspermia, and short stature. Hum Genet 1977;39:1 17-22.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1136\/jmg.9.3.373","article-title":"Normal male development with Y chromosome long arm deletion (Yq-)","volume":"9","author":"Meisner, L.F.; Inhorn, S.L.","year":"1972","unstructured":"Meisner LF, Inhorn SL. Normal male development with Y chromosome long arm deletion (Yq-). J Med Genet 1972;9:373-7.","journal-title":"J Med Genet"},{"key":"ref_5","first-page":"729","article-title":"Delezione delle braccia lunghe del chromosoma Y e malformazioni multiple","volume":"31","author":"Scherini, A.; Sangermani, R.; Elli, P.","year":"1979","unstructured":"Scherini A, Sangermani R, Elli P. Delezione delle braccia lunghe del chromosoma Y e malformazioni multiple. Minerva Pediatr 1979;31:729-31.","journal-title":"Minerva Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1016\/S0022-3476(65)80220-7","article-title":"A mentally retarded boy with a minute Y chromosome","volume":"67","author":"Nakagome, Y.; Sasaki, M.; Matsui, I.; Kawazura, M.; Fukuyama, Y.","year":"1965","unstructured":"Nakagome Y, Sasaki M, Matsui I, Kawazura M, Fukuyama Y. A mentally retarded boy with a minute Y chromosome. J Pediatr 1965;67:1163-7.","journal-title":"J Pediatr"},{"key":"ref_7","article-title":"Probable long-arm deletion of Y chromosome in boy of short stature","volume":"608","author":"Telfer, M.; Baker, D.; Rollin, I.","year":"1973","unstructured":"Telfer M, Baker D, Rollin I. Probable long-arm deletion of Y chromosome in boy of short stature. Lancet 1973;i: 608.","journal-title":"Lancet"},{"key":"ref_8","first-page":"15","article-title":"Followup until age 4-8 of 25 unselected children with sex chromosome abnormalities, compared with siblings and controls","volume":"1","author":"Neilsen, J.; Sillesen, I.; Sorensen, A.M.; Sorenson, K.","year":"1979","unstructured":"Neilsen J, Sillesen I, Sorensen AM, Sorenson K. Followup until age 4-8 of 25 unselected children with sex chromosome abnormalities, compared with siblings and controls. Birth Defects 1979;XV(1):15-73.","journal-title":"Birth Defects"},{"key":"ref_9","first-page":"\"223","article-title":"Incidence of chromosome abnormalities","volume":"8","author":"Cohen","year":"1975","unstructured":"Incidence of chromosome abnormalities. Clin Genet 1975;8:223-43. 10 Borgaonkar DS. Cytogenetic screening of communitydwelling males. In: Cohen et al, eds. Genetic issues in public health and medicine. Springfield, Illinois: Thomas, 1978:215-34.","journal-title":"Clin Genet; Genetic issues in public health and medicine; Borgaonkar DS. Cytogenetic screening of communitydwelling males"},{"issue":"3","key":"ref_10","first-page":"745","article-title":"Frequency of chromosome variants in human populations","volume":"15","author":"Kuleshov, N.P.; Kulieva, L.M.","year":"1979","unstructured":"Kuleshov NP, Kulieva LM. Frequency of chromosome variants in human populations. Genetika 1979;15(3): 745-51.","journal-title":"Genetika"},{"key":"ref_11","first-page":"45","article-title":"A chromsome survey of 13,751 male newborns","author":"Walzer, S.; Gerald, P.S.","year":"1977","unstructured":"Walzer S, Gerald PS. A chromsome survey of 13,751 male newborns. In: Hook EB, Porter IH, eds. Population cvtogenetics. New York: Academic Press, 1977:45-61."},{"key":"ref_12","first-page":"429","article-title":"Sisters with low birth weight, dwarfism, congenital anomalies, and dysgammaglobulinemia","volume":"122","author":"Christian, J.C.; Johnson, V.P.; Biegel, A.A.; Gresham, E.L.; Rosenberg, G.J.","year":"1971","unstructured":"Christian JC, Johnson VP, Biegel AA, Gresham EL, Rosenberg GJ. Sisters with low birth weight, dwarfism, congenital anomalies, and dysgammaglobulinemia. Am J Dis Child 1971;122:429-34.","journal-title":"Am J Dis Child"},{"key":"ref_13","article-title":"Surveys indicate that balanced chromosomal rearrangements are found in about 1 15 % of newborn infants and that these rearrangements arise de novo in 0.02%.1 Karyotypic imbalance is usually associated with mental retardation and multiple anomalies, whereas it is a general finding that persons with balanced chromosomal rearrangements are phenotypically normal.'","volume-title":"the newborn infants with balanced de novo rearrangements found by the surveys were phenotypically normal.' Nevertheless, some persons with balanced de novo chromosomal rearrangements have shown mental retardation or physical anomaly. Tharapel et all reviewed 25 cases from the literature and described a further six cases. Most were ascertained because of their physical or mental anomaly and it is therefore not possible to reach a reliable estimate of their incidence. However, the absence of such Received for publication","author":"Thus, almost all","year":"1981","unstructured":"Surveys indicate that balanced chromosomal rearrangements are found in about 1 15 % of newborn infants and that these rearrangements arise de novo in 0.02%.1 Karyotypic imbalance is usually associated with mental retardation and multiple anomalies, whereas it is a general finding that persons with balanced chromosomal rearrangements are phenotypically normal.' Thus, almost all the newborn infants with balanced de novo rearrangements found by the surveys were phenotypically normal.' Nevertheless, some persons with balanced de novo chromosomal rearrangements have shown mental retardation or physical anomaly. Tharapel et all reviewed 25 cases from the literature and described a further six cases. Most were ascertained because of their physical or mental anomaly and it is therefore not possible to reach a reliable estimate of their incidence. However, the absence of such Received for publication 14 December 1981"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.5.377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:02:37Z","timestamp":1760767357000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.5.377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,10]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1982,10,1]]},"published-print":{"date-parts":[[1982,10]]}},"alternative-id":["10.1136\/jmg.19.5.377"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.5.377","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,10]]}}}