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Research Article
Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
  1. C P Chen,
  2. C C Lee,
  3. L F Chen,
  4. C Y Chuang,
  5. S W Jan,
  6. B F Chen
  1. Department of Obstetrics and Gynaecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.

    Abstract

    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.

    https://doi.org/10.1136/jmg.34.9.777

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