Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
- 1 February 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (2), 127-130
- https://doi.org/10.1136/jmg.26.2.127
Abstract
We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.Keywords
This publication has 10 references indexed in Scilit:
- DENOVO INTERSTITIAL DELETION - 46,XX,DEL(2)(Q14Q21) AND PREMATURE CRANIOSYNOSTOSIS1987
- 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, 1986
- Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3Human Genetics, 1985
- Catalogue of Unbalanced Chromosome Aberrations in ManPublished by Walter de Gruyter GmbH ,1983
- Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).Journal of Medical Genetics, 1983
- Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardationHuman Genetics, 1983
- Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).Journal of Medical Genetics, 1983
- Interstitial deletion 2q31→q33American Journal of Medical Genetics, 1983
- Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their fatherAmerican Journal of Medical Genetics, 1983
- INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 - CASE-REPORT AND REVIEW OF LITERATURE1981