Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.
To clarify the genotype-phenotype correlation of 5p- syndrome, FISH analyses were performed for six patients by using a series of probes spanning 5p13.1-p15.33. Genotypically, break points of deletion were quite different. Three of the six patients were diagnosed as interstitial deletion on chromosome 5p by G-banding method and FISH analysis; however, all of them proved to be entire distal deletions of 5p caused by unbalanced chromosomal translocations. Furthermore, one 5p- syndrome patient was diagnosed only by the FISH analysis using a single probe but not by ordinary chromosomal analyses. Therefore, when ordinary chromosomal analysis cannot detect any deletion in a patient who is phenotypically suspected of 5p- syndrome, multiple FISH analysis or parental chromosomal analysis would be needed for correct diagnosis. Interestingly, one patient with terminal deletion between 5p15.31-pter lacks mental retardation and cat-like crying, indicating that this region might not be responsible for those cardinal features of 5p- syndrome. Further studies on genotype-phenotype correlation will help us better understand 5p- syndrome and also determine functional mapping of the 5p region.
Kondoh
Tatsuro
T
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan. kontatsu@net.nagasaki-u.ac.jp.
Shimokawa
Osamu
O
Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.|Department of Human Genetics, Nagasaki University Graduate School of Biomedical Science, Nagasaki, Japan.
Harada
Naoki
N
Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
Doi
Tomoki
T
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Yun
Chyuns
C
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Gohda
Yuji
Y
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Kinoshita
Fumiko
F
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Matsumoto
Tadashi
T
Department of Nursing, Nagasaki University School of Medicine, Nagasaki, Japan.
Moriuchi
Hiroyuki
H
Department of Pediatrics, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype