{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T14:36:37Z","timestamp":1770474997611,"version":"3.49.0"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,1,1]]},"abstract":"<jats:p>Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). A critical haploinsufficiency region for DGS\/VCFS was defined on 10p (<jats:italic>DGCR2<\/jats:italic>). We performed molecular deletion analysis of two further patients with partial monosomy 10p, who showed hypoparathyroidism, deafness, and renal dysplasia or renal insufficiency, but no cardiac defect, cleft palate, or reduced T cell levels. Previously, the combination of hypoparathyroidism, deafness, and renal dysplasia has been proposed to represent a specific syndrome (MIM 146255) under the acronym HDR. In addition to the two patients in this report, at least four published cases with partial monosomy 10p show the triad of HDR and 14 other patients present with at least two of the three features. We therefore conclude that HDR syndrome can be associated with partial monosomy 10p. Based on molecular deletion analysis and the clinical data, we suggest that the DGS\/VCFS phenotype associated with 10p deletion can be considered as a contiguous gene syndrome owing to haploinsufficiency of two different regions. Hemizygosity of the proximal region, designated<jats:italic>DGCR2<\/jats:italic>, can cause cardiac defect and T cell deficiency. Hemizygosity of the distal region, designated<jats:italic>HDR1<\/jats:italic>, can cause hypoparathyroidism and in addition sensorineuronal deafness and renal dysplasia\/insufficiency or a subset of this triad.<\/jats:p>","DOI":"10.1136\/jmg.37.1.33","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:40:22Z","timestamp":1027752022000},"page":"33-37","source":"Crossref","is-referenced-by-count":92,"title":["An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13\/14"],"prefix":"10.1136","volume":"37","author":[{"given":"Peter","family":"Lichtner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"K\u00f6nig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Schuffenhauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,1,1]]},"reference":[{"key":"2025101723111746000_37.1.33.1","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1056\/NEJM199210083271506","article-title":"Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.","volume":"357","author":"Bileous","year":"1992","journal-title":"N Engl J Med"},{"key":"2025101723111746000_37.1.33.2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-L"},{"key":"2025101723111746000_37.1.33.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200183"},{"key":"2025101723111746000_37.1.33.4","first-page":"162","article-title":"DiGeorge syndrome and partial monosomy 10p: case report and review.","volume":"38","author":"Schuffenhauer","year":"1995","journal-title":"Ann Genet"},{"key":"2025101723111746000_37.1.33.5","doi-asserted-by":"publisher","DOI":"10.1086\/301718"},{"key":"2025101723111746000_37.1.33.6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<72::AID-AJMG14>3.0.CO;2-O"},{"key":"2025101723111746000_37.1.33.7","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/BF01913177","article-title":"Interstitial deletion of the short arm of chromosome 10: report of a case and review of the literature.","volume":"41","author":"Kato","year":"1996","journal-title":"Jpn J Hum Genet"},{"key":"2025101723111746000_37.1.33.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.2.159"},{"key":"2025101723111746000_37.1.33.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560204"},{"key":"2025101723111746000_37.1.33.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-458"},{"key":"2025101723111746000_37.1.33.11","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550410.x"},{"key":"2025101723111746000_37.1.33.12","first-page":"189","article-title":"Distal 10p deletion syndrome.","volume":"24","author":"Fryns","year":"1981","journal-title":"Ann Genet"},{"key":"2025101723111746000_37.1.33.13","first-page":"101","article-title":"Partial deletion 10p syndrome.","volume":"35","author":"Obregon","year":"1992","journal-title":"Ann Genet"},{"key":"2025101723111746000_37.1.33.14","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<304::AID-AJMG11>3.0.CO;2-Y","article-title":"Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetic and molecular biology.","volume":"65","author":"Lipson","year":"1996","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.1.33","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:11:24Z","timestamp":1760767884000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.1.33"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2000,1,1]]},"published-print":{"date-parts":[[2000,1,1]]}},"alternative-id":["10.1136\/jmg.37.1.33"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.1.33","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,1,1]]}}}