Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).
- 1 December 1983
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (6) , 464-465
- https://doi.org/10.1136/jmg.20.6.464
Abstract
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.Keywords
This publication has 3 references indexed in Scilit:
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- Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2) (q34q36)Human Genetics, 1976
- Mapping Human Autosomes: Assignment of the MN Locus to a Specific Segment in the Long Arm of Chromosome No. 2Science, 1973