O▪88 PGD for a patient with karyotype 46, XX, ins(14;2)(q21;q31q35)
✍ Scribed by C Melotte; S Debrock; T D'Hooghe; JP Frijns; J Vermeesch
- Book ID
- 119612230
- Publisher
- Reproductive Healthcare Ltd
- Year
- 2005
- Tongue
- English
- Weight
- 101 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1472-6491
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📜 SIMILAR VOLUMES
We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that
## Abstract We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay,