Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25).

doi:10.1002/ajmg.1320450604

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Article

Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25).

American journal of medical genetics - 15 Mar 1993

Leichtman L G, Strum D, Brothman A R

Abstract excerpt

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 sev...

Topics

Amniocentesis
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 1
Facial Bones
Female
Fetus
Gestational Age
Humans
Phenotype
Skull

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