Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).
AUTOR(ES)
Al-Awadi, S A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049184Documentos Relacionados
- Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).
- A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].
- Interstitial deletion of the long arm of chromosome 11.
- Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
- Interstitial deletion of the distal long arm of chromosome 4.