Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

AUTOR(ES)

Chen, C P

RESUMO

We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.

Documentos Relacionados

• Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
• Deletion 14q and pericentric inversion 14.
• Interstitial deletion of chromosome band 13q14 associated with squamous cell carcinoma.
• De novo 10q23 interstitial deletion.
• A case of de novo interstitial deletion 3q.