Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated.
Gorski
J L
JL
Department of Pediatrics, University of Michigan Medical Center, Ann Arbor 48109.
Cox
B A
BA
Kyine
M
M
Uhlmann
W
W
Glover
T W
TW
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002869:Chromosome Aberrations / Q000473:pathology / Q000503:physiopathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005152:Facial Muscles / Q000503:physiopathology; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D010641:Phenotype