Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype
Küçük Resim Yok
Tarih
1999
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
MEDECINE ET HYGIENE
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Coexistence of inverted I; chromosome 15p+ and abnormal phenotype: In this study: we report conventional and molecular cytogenetic studies in a patient with multiple anomalies who is a carrier of a pericentric inversion on chromosome Y and a chromosome 15p+. His parents were phenotSpically normal. The father is a carrier of a pericentric inversion of chromosome I; and the mother carries a large chromosome 15p+ variant. The inverted Y chromosome was demonstrated bg GTG- and CBG-banding, and DAPI-staining. The presence of extra chromosomal material on the chromosome 15p, that was C-band and DAPI positive, was demonstrated by trypsin G-banding. This suggests that the extra chromosomal material contained repetitive DNA sequences. NOR-staining indicated the presence a nuclear organizer region at the junction of the chromosome 15p+ material. Fluorescence in situ hybridization (FISH), with chromosome X and Y painting probes, alpha- and classic-satellite probes specific for chromosome I: alpha- and beta-satellite III probes for chromosome 15 were used to elucidate the nature of both the inverted Y chromosome and chromosome 15pt. The result with chromosome X and Y painting probes, alpha-satellite, classic-satellite, and DYS59 probes specific for chromosome Y revealed the rearrangement of the Y chromosome was an inv(Y)(p11.2q11.22 or q11.23). FISH with alpha-satellite and beta-satellite III probes for chromosome 15 demonstrated that the extra chromosomal material on the chromosome 15 probably represents beta-satellite III sequences. The possible roles of the simultaneous occurrence of an inverted Y and the amplified DNA sequence on chromosome 15p in the abnormal phenotype of the proband are discussed.
Açıklama
Anahtar Kelimeler
pericentric inversion of Y chromosome chromosome 15p+, abnormal phenotype, FISH
Kaynak
GENETIC COUNSELING
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
10
Sayı
2
