{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:18:28Z","timestamp":1698297508883},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5603,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>At least nine cases of holoprosencephaly (HPE) found in patients with confirmed loss of 7q34\u21927qter or 7q36\u21927qter have been reported in the literature. In the present report, balanced rearrangements involving chromosome 7q [inv(7)(p22.1q34) and t(4;7)(q31;q36)] were shown in two mothers examined after the birth of their non\u2010karyotyped infants with HPE and hydronephrosis. In both cases, del(7q) was the most probable imbalance. The available data confirm the association between HPE and del(7q). Predominance of cyclopia and cebocephaly, the severest forms of HPE, suggests that del(7q) may be an important factor in arresting prosencephalon development at the earliest stages.<\/jats:p>","DOI":"10.1002\/ajmg.1320350229","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:39:08Z","timestamp":1118547548000},"page":"286-288","source":"Crossref","is-referenced-by-count":20,"title":["Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis"],"prefix":"10.1002","volume":"35","author":[{"given":"I. 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