Unique case of trisomy 2p24.3-pter with no associated monosomy.
We report a 3-year-old girl with trisomy 2p24.3-pter who presented with marked psychomotor delay and dysmorphic features. This patient represents the only known case of trisomy 2p24.3-2pter that does not involve an associated functional monosomy. In contrast to recent reports highlighting the fatal or serious complications in patients described as having partial trisomy 2p, this patient does not have significant birth defects or life threatening medical problems. Notably, this patient does not have a neural tube defect (NTD), which has been attributed to a putative locus at 2p24 in other patients with a partial trisomy 2p.
Roggenbuck
J A
JA
Department of Pediatrics, Medical Genetics Program, Hennepin County Medical Center, 701 Park Ave., Minneapolis, MN 55415, USA. Jennifer.roggenbuck@co.hennepin.mn.us
Fink
J M
JM
Mendelsohn
N J
NJ
D002648:Child; D002889:Chromosomes, Human, Pair 2; D020732:Cytogenetic Analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008607:Intellectual Disability; D007621:Karyotyping; D009006:Monosomy; D010641:Phenotype; D014314:Trisomy