De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.

We report a case of a boy with a de novo interstitial deletion of chromosome (2) (p11.2p13). Clinical features included dysmorphism of the face, genital region, and limbs, psychomotor retardation, and vitiligo. A reduced ratio of immunoglobulin (Ig) light chain expression (kappa/lambda ratio: 0.7) w...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Los, F J, Van Hemel, J O, Jacobs, H J, Drop, S L, van Dongen, J J
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1994
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049605/
https://ncbi.nlm.nih.gov/pubmed/8151644
Tagiau: Ychwanegu Tag
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