## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosisβptosisβepicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on
β¦ LIBER β¦
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions
β Scribed by Marjolein H. Willemsen; Nicole de Leeuw; Catherine Mercer; Helen Eisenhauer; Joanne Morris; Morag N. Collinson; John C.K. Barber; Stephen T.S. Lam; Ivan F.M. Lo; Hanneke Rensen; Annemarie Ferwerda; Ben C.J. Hamel; Tjitske Kleefstra
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 231 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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## Abstract We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectod