Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.
Partial trisomy 2p is typically associated with partial monosomy of another chromosomal segment and results from a balanced translocation in one of the parents. Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes. Several cases initially interpreted as terminal duplications have instead been documented to represent inverted duplications with terminal deletions. Inv dup del(2p) has been reported in patients who manifest the clinical findings of trisomy 2p syndrome. Here we report on a 2-month-old girl with inv dup del(2p) and clinical manifestations that overlap those found commonly in partial 2p trisomy, as previously reported in the literature. Her clinical picture helps delineate the phenotype of 2p duplication disorders.
Tirado
Carlos A
CA
Laboratory of Cytogenetics, Department of Pathology, UTSouthwestern Medical Center, Dallas, Texas 75235, USA. carlos1.tirado@UTSouthwestern.edu
Henderson
Samuel
S
Uddin
Naseem
N
Stewart
Ewa
E
Iyer
Santha
S
Ratner
Ian M
IM
Matthews
Erin
E
Doolittle
Jeffrey
J
Garcia
Rolando
R
Valdez
Federico
F
Dallaire
Stephanie
S
Appleberry
Taylor
T
Payne
Deborah
D
Collins
Robert
R
D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods*; D017809:Fatal Outcome; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*