dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.
A 15-year-old girl had exertion dyspnea, focal nodular hyperplasia of the liver, portal vein hypoplasia, portopulmonary hypertension, mental retardation, and minor facial abnormalities. Cytogenetic analysis demonstrated an abnormal chromosome 8 with 8p22-pter duplication and 8q24.3-qter deletion, with the duplicated 8p segment attached to band 8q24.3. Her mother had a pericentric inversion of chromosome 8, inv(8)(p22q24.3). Therefore, the girl's abnormal chromosome 8 was a recombinant of maternal inversion chromosome: 46,XX,rec(8)dup(8p)inv(8)(p22q24.3)mat. Further characterization of the recombinant chromosome, using array CGH and regional FISH analyses, defined 15 Mb distal 8p duplication and 0.5 Mb 8q deletion. Possible correlation of the recombinant chromosome and hepatic focal nodular hyperplasia in the patient is discussed.
Tokutomi
Tomoharu
T
Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan. tokutomi-tomo@umin.ac.jp
Hayashi
Shin
S
Imai
Kohsuke
K
Chida
Ayako
A
Ishiwata
Takahiro
T
Asano
Yuh
Y
Inazawa
Johji
J
Nonoyama
Shigeaki
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D020518:Focal Nodular Hyperplasia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011995:Recombination, Genetic / Q000235:genetics*