Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25).
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.
Leichtman
L G
LG
Department of Pediatrics, Eastern Virginia Medical School, Norfolk.
Strum
D
D
Brothman
A R
AR
D000649:Amniocentesis; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005333:Fetus / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*