Table 2 Cytogenetic and/or molecular studies and clinical features reported in patients with Yq deletions
From: Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
Reference | Karyotype G, C or Q- banding | Molecular /cytogenomic studies | Extension of the deletion | Shared clinical manifestations | Other clinical manifestations | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
M | HP | H | LH | Hy | FD | NMD | A | DD | |||||
Nakagome et al., 1965 [22] | + | – | NR | – | – | – | + | + | + | + | NA | + | |
Meisner et al., 1972 [19] | + | – | NR | – | – | – | – | – | + | Cryptorchidism | NR | + | Tall stature |
Neu et al., 1973 [23] | + | – | NR | – | – | – | – | – | – | + | + | – | |
Telfer et al., 1973 [24] | + | – | NR | – | – | – | + | – | – | + | NA | + | |
Yunis et al., 1977 [8] | + | – | NR | – | – | – | + | – | – | + | + | – | |
Podruch et al., 1982 [25] | + | – | 46,X,del(Y)(q11) | + | – | – | + | – | + | Micropenis | NA | + | |
Kosztolániy et al., 1983 [26] | + | – | 46,X,del(Y)(q11) | – | – | – | + | – | – | – | + | + | Gynecomastia |
Langmaid et al., 1974 [27] | + | – | NR | – | – | – | + | – | – | + | NA | – | |
Skare et al., 1990 [21] | + | SB | 46,X,del(Y)(q11) | – | + | + | + | – | + | Micropenis | + | – | |
Calzolari et al., 1993 [7] | + | FISH, SB, STS markers | 46,X,del (Y)(q11.21qter) | – | – | – | + | + | – | Cryptorchidism | NA | – | CoAo |
Lahn et al., 1994 [20] | + | FISH, STS markers | NR, heterogeneous breakpoints along Yq | + | + | – | – | – | + | Cryptorchidism | + | + | |
Salo et al., 1995 [18] (9 patients) | + | STS markers | NR, all patients including Yq11 region | – | 5/9 | – | 5/9 | – | 8/9 | Cryptorchidism 1/9, micropenis 2/9, ASD 1/9 | + | 9/9 | CoAo (n = 1) |
Rousseaux-Prévost et al., 1996 [28] | + | STS markers | 46,X, del(Y)(q11.21) | – | – | – | – | – | – | + | + | – | |
De Rosa et al., 1997 [29] | + | SB, STS markers | 46,X,del(Y)(q11.1pter) | – | – | – | + | – | + | + | + | – | |
Kim et al., 2012 [6] | + | FISH, STS markers | 46, X,del (Y)(q11.23) | NR | NR | – | NR | NR | NR | NR | + | NR | |
This patient | + | STS markers, CMA: arr [hg19] Yq11.21q11.23(14,064,952-28,766,705)×0 pat | 46,X,del(Y)(q11) | – | + | + | + | – | + | Micropenis | NA | + | Everted lower lips, Retroauricular pits |