Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.
Partial trisomy 7p with partial monosomy 9p is a rare disorder with only 3 cases reported. Both these abnormalities i.e., partial trisomy 7p and partial monosomy 9p result in distinct clinical phenotypes. However, patients with combined 7p trisomy/9p monosomy present with a phenotype consistent with trisomy 7p. We present a fourth case of trisomy 7p/monosomy 9p with long term follow-up and document the medical complications associated with this disorder. Long term follow-up of patients with chromosome abnormalities provides a unique opportunity to document the medical history and complications associated with such abnormalities.
Velagaleti
Gopalrao V N
GV
Department of Pathology, University of Texas Medical Branch, Galveston, TX, USA. velagaleti.gopalrao@mayo.edu
Hawkins
Judy C
JC
Panova
Neli I
NI
Lockhart
Lillian H
LH
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*