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.
โฆ LIBER โฆ
Infant with del(3) (p25-pter): Karyotype-phenotype correlation and review of previously reported cases
โ Scribed by Nienhaus, H. ;Mau, U. ;Zang, K. D.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 256 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Two infants with del(3)(p25pter) and a r
โ
Ramer, Jeanette C. ;Ladda, Roger L. ;Frankel, Carl
๐
Article
๐
1989
๐
John Wiley and Sons
๐
English
โ 476 KB
๐ 1 views
Loss of the 3p25.3 band is critical in t
โ
Narahara, Kouji ;Kikkawa, Kiyoshi ;Murakami, Masae ;Hiramoto, Kei ;Namba, Hirosh
๐
Article
๐
1990
๐
John Wiley and Sons
๐
English
โ 459 KB
Chromosome rearrangements in Cornelia de
โ
Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W. Innis; Nancy B. Spinner
๐
Article
๐
2005
๐
John Wiley and Sons
๐
English
โ 200 KB
๐ 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 โผ50% of individuals with CdLS. Numerous chro