Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. [electronic resource]
Producer: 19980709Description: 188-97 p. digitalISSN:- 0148-7299
- Abnormalities, Multiple -- diagnosis
- Abortion, Induced
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- Clubfoot -- diagnostic imaging
- Connective Tissue Diseases -- congenital
- Contracture -- congenital
- DNA -- blood
- Female
- Fetal Diseases -- diagnosis
- Fibrillin-2
- Fibrillins
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Marfan Syndrome -- diagnosis
- Microfilament Proteins -- genetics
- Pregnancy
- Prenatal Diagnosis
- Ultrasonography, Prenatal
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Publication Type: Case Reports; Journal Article
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