Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases.
Stockton
D W
DW
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.
Ross
H L
HL
Bacino
C A
CA
Altman
C A
CA
Shaffer
L G
LG
Lupski
J R
JR
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype