Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33). American journal of medical genetics. [Am J Med Genet] Journal article | | Title | Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33). | | Author(s) | Benson K, Gordon M, Wassman ER, Tsi C | | Source | Am J Med Genet 1986 Nov; 25(3):405-11. | | MeSH | Abnormalities, Multiple
Autopsy
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 2
Female
Humans
| | Abstract | 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 this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low-set ears, and hand and foot abnormalities. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 3789004 |
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