Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21‐>q25)
- 15 March 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (6) , 677-678
- https://doi.org/10.1002/ajmg.1320450604
Abstract
We present a patient with an interstitial deletion of the chromosome 1q21‐>q25 that was diagnosed by amniocentesis. Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. The autopsy results demonstrate an overlap with several other postnatally ascertained patients and document the phenotype prenatally.Keywords
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