{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T10:07:06Z","timestamp":1778494026332,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T00:00:00Z","timestamp":1681948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Partial deletions at chromosome 7q11.23 are causative for the autosomal\u2010dominant Williams\u2013Beuren syndrome (WBS), whereas the partial duplication of this region leads to the 7q11.23 duplication syndrome. Both syndromes are highly penetrant and occur with a frequency of 1:7500\u201310,000 (WBS) and 1:13,000\u201320,000 (7q11.23 duplication syndrome). They are associated with multiple organ defects, intellectual disability, and typical facial dysmorphisms showing broad phenotypic variability. The 7q11.23 region is susceptible to chromosomal rearrangements due to flanking segmental duplications and regions of long repetitive DNA segments. Here, we report on a family with two children affected by WBS and clinically unaffected parents. Interestingly, metaphase fluorescence in situ hybridization (FISH) revealed a deletion on 7q11.23 in the father. Intensive genetic testing, using interphase FISH, whole genome sequencing and optical genome mapping led to the confirmation of a 1.5\u2009Mb deletion at one 7q11.23 allele and the identification of a reciprocal 1.8\u2009Mb duplication at the other allele. This finding is highly important regarding genetic counseling in this family. The father is a silent carrier for two syndromic disorders, thus his risk to transmit a disease\u2010causing allele is 100%. To the best of our knowledge we, here, report on the first case in which the phenotype of a microdeletion\/microduplication syndrome was compensated by its reciprocal counterpart.<\/jats:p>","DOI":"10.1002\/ajmg.a.63215","type":"journal-article","created":{"date-parts":[[2023,4,21]],"date-time":"2023-04-21T03:07:14Z","timestamp":1682046434000},"page":"1849-1857","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9446-2411","authenticated-orcid":false,"given":"Jonathan Lukas","family":"L\u00fchmann","sequence":"first","affiliation":[{"name":"Hannover Medical School Department of Human Genetics  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gunnar","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Hannover Medical School Department of Human Genetics  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Auber","sequence":"additional","affiliation":[{"name":"Hannover Medical School Department of Human Genetics  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anke Katharina","family":"Bergmann","sequence":"additional","affiliation":[{"name":"Hannover Medical School Department of Human Genetics  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Brandau","sequence":"additional","affiliation":[{"name":"SYNLAB MVZ Humangenetik Mannheim GmbH  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Louis","sequence":"additional","affiliation":[{"name":"Labor f\u00fcr Humangenetische Diagnostik  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Hentze","sequence":"additional","affiliation":[{"name":"Labor f\u00fcr Humangenetische Diagnostik  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Eisfeld","sequence":"additional","affiliation":[{"name":"Labor f\u00fcr Humangenetische Diagnostik  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Schlegelberger","sequence":"additional","affiliation":[{"name":"Hannover Medical School Department of Human Genetics  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruediger","family":"Klaes","sequence":"additional","affiliation":[{"name":"SYNLAB MVZ Humangenetik Mannheim GmbH  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Steinemann","sequence":"additional","affiliation":[{"name":"Hannover Medical School Department of Human Genetics  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.887"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.26.6.1235"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1401923111"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv710"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90168-P"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/2022.06.10.495642"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104084"},{"key":"e_1_2_10_9_1","unstructured":"Garrison E. &Marth G.(2012).Haplotype\u2010based variant detection from short\u2010read sequencing."},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001470"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30258"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.70.4.494"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13174388"},{"key":"e_1_2_10_14_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Mervis C. 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