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
Interstitial deletion of chromosome 2 region in a malformed infant
โ Scribed by Melnyk, A. R. ;Muraskas, J.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 639 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Two infants with chromosome 22q11 deletion syndrome were noted to have symmetrically enlarged Sylvian fissures on cranial MRI. We compared the size of the Sylvian fissures in neuroimaging studies from 17 other subjects with del 22q11 to agematched disease controls. The mean anterior interopercular d
Microcephaly and craniofacial dysmorphia, cleft palate, cardiac malformation, and hypospadias are observed in a child with 46,XY,del (1)(q42).
The clinical findings in a child with a terminal deletion (1) (q42 leads to qter) is described and compared with three cases with a similar chromosomal anomaly.