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Two infants with del(3)(p25pter) and a review of previously reported cases

✍ Scribed by Ramer, Jeanette C. ;Ladda, Roger L. ;Frankel, Carl

Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
476 KB
Volume
33
Category
Article
ISSN
0148-7299

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✦ Synopsis

Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.

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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 πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 200 KB πŸ‘ 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