Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversion
Küçük Resim Yok
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21qter and a deletion of p11.2pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. (c) 2014 Wiley Periodicals, Inc.
Açıklama
Anahtar Kelimeler
Chromosomal Abnormalities, Chromosome 18, Pericentric Inversion, Parental Origin
Kaynak
American Journal Of Medical Genetics Part A
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
164
Sayı
5
