Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

Chromosome rearrangements in Cornelia de

Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

✍ Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W. Innis; Nancy B. Spinner 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB 👁 2 views

## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in ∼50% of individuals with CdLS. Numerous chro