## Abstract We describe a 34βyearβold male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabi
β¦ LIBER β¦
Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption
β Scribed by Hideki Fujita; Tadahiro Yanagi; Rika Kosaki; Chiharu Torii; Masahiro Bamba; Takao Takahashi; Kenjiro Kosaki
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 78 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract We describe the cytogenetic diagnosis using BACβ and oligonucleotide microarrays of a 16βyearβold LaotianβAmerican female, who first presented at 2Β½ years of age with microcephaly, developmental retardation, and skeletal abnormalities of the upper limb including mild syndactyly of the s